Minicore Myopathy With External Ophthalmoplegia

Description

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Minicore Myopathy With External Ophthalmoplegia

  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Motor delay
  • Muscular hypotonia
  • Ptosis
  • Cleft palate
  • Abnormal facial shape
And another 80 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Minicore Myopathy With External Ophthalmoplegia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, NEB, DNM2, TTN, MYH7, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Congenital Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
5 %
Genes
100 %
Congenital Muscular Myopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

NEB, DNM2, MYH7, SELENON, RYR1, TPM3, ACTA1, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6
Specificity
7 %
Genes
100 %
RYR1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

RYR1
Specificity
100 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Congenital Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
8 %
Genes
100 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
8 %
Genes
100 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Centronuclear Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DNM2, RYR1, CCDC78, MTM1, BIN1, MYF6, SPEG
Specificity
15 %
Genes
100 %
Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
15 %
Genes
100 %
Multiminicore Disease Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SELENON, RYR1
Specificity
50 %
Genes
100 %
Malignant hyperthermia susceptibility 1.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
100 %
Central core disease.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
100 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, ACADVL, ALDOA, GAA, CPT2, HADHA, PGM1, LDHA, ENO3, GYS1, HADHB, PHKA1, LPIN1, PGAM2, ISCU, PFKM, PYGM, GBE1, ETFB, ETFA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1
Specificity
20 %
Genes
100 %
RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
RYR1. Sequencing of the exons 2, 5, 9, 11, 12, 14, 17, 39, 40, 44, 45, 46, 71, 100, 101 and 102.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
RYR1. NextGeneDx.Sequencing by NGS of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SELENON, RYR1
Specificity
50 %
Genes
100 %
RYR1. Sequencing of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
100 %
Central core myopathy (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia susceptibility (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
100 %
Central core myopathy (deletion/duplication analysis on RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
RYR1-Related Congenital Myopathies via the RYR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RYR1
Specificity
100 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CACNA1S, RYR1, STAC3
Specificity
34 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Malignant Hyperthermia panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

ACADM, ACADS, AGL, ACADVL, GAA, AMACR, CPT2, HADHA, PNPLA2, HADHB, ABHD5, LPIN1, ISCU, PFKM, PYGM, ETFB, ETFA, ETFDH, SLC22A5, DMD , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Malignant Hyperthermia- RYR1, CACNA1S.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
RYR1.

By MGZ Medical Genetics Center in Germany.

RYR1
Specificity
100 %
Genes
100 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Malignant Hyperthermia.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, LMNA, FHL1, SELENON, RYR1, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
10 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy.

By MGZ Medical Genetics Center in Germany.

NEB, DNM2, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, KBTBD13, CFL2, TPM2, TNNT1, MTM1, BIN1, MTMR14
Specificity
7 %
Genes
100 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, NEB, CAPN3, RAPSN, DNM2, LMNA, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, SYNE1, TMEM43, SYNE2, EMD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Periodic Palsy.

By MGZ Medical Genetics Center in Germany.

SCN4A, CACNA1S, RYR1, KCNJ2, KCNE3, KCNJ12
Specificity
17 %
Genes
100 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Malignant Hyperthermia Susceptibility.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Minicore myopathy / Central core disease.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RYR1
Specificity
100 %
Genes
100 %
Minicore myopathy with external ophthalmoplegia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia panel.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Central core disease of muscle.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Malignant Hyperthermia Panel.

By CeGaT GmbH in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Malignant Hyperthermia, RYR1.

By GGA - Galil Genetic Analysis in Israel.

RYR1
Specificity
100 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CPT2, COQ2, PYGM, LDLR, LIPA, APOE, RYR1, ABCB1, AMPD1, ABCG5, ABCG8, CYP2D6, NPC1L1, PCSK9, LDLRAP1, APOB, SLCO1B1, CYP3A4, CYP3A5, SLC22A8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
RYR1-Related Multiminicore Disease.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
100 %
RYR1-Related Malignant Hyperthermia Susceptibility.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
100 %
RYR1-Related Congenital Fiber-Type Disproportion.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
100 %
Central core disease.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia susceptibility 1.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
100 %
Central core disease.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia susceptibility 1.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Invitae Malignant Hyperthermia Susceptibility Panel.

By Invitae in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Invitae Multiminicore Disease Panel.

By Invitae in United States.

SELENON, RYR1
Specificity
50 %
Genes
100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Invitae Congenital Myopathy Panel.

By Invitae in United States.

NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Invitae Centronuclear Myopathy Panel.

By Invitae in United States.

DNM2, TTN, RYR1, CCDC78, MTM1, BIN1
Specificity
17 %
Genes
100 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Central Core Disease Test.

By Invitae in United States.

RYR1
Specificity
100 %
Genes
100 %
Invitae Congenital Fiber-Type Disproportion Panel.

By Invitae in United States.

LMNA, MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
15 %
Genes
100 %
Central core congenital myopathy: RYR1 gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 2, 6-18).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 39-48).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 85-104).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
Central core disease: RYR1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
Hipertermia maligna: Secuenciación gen RYR1.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
100 %
CONGENITAL MYOPATHY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
100 %
RYR1-Related Disorders: RYR1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
100 %
RYR1-Related Disorders: RYR1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
100 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
Congenital Fiber Type Disproportion NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
20 %
Genes
100 %
RYR1.

By Fulgent Genetics Fulgent Genetics in United States.

RYR1
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Malignant hyperthermia.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
100 %
Central core disease.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
100 %
MALIGNANT HYPERTHERMIASUSCEPTIBILITY TYPE 1 (KING SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
100 %
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
100 %
CENTRAL CORE MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
100 %
MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE).

By Laboratorio de Genetica Clinica SL in Spain.

SELENON, RYR1
Specificity
50 %
Genes
100 %
Congenital Central Core Myopathy , Screening Mutations RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant Hyperthermia Type 1 , Sequencing Exons (85-104) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant Hyperthermia Type 1 , Sequencing Exons (39-48) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Malignant Hyperthermia Type 1 , Sequencing Exons (2, 6-18) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Congenital Central Core Myopathy , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
100 %
Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
100 %
Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes.

By Reference Laboratory Genetics in Spain.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Malignant Hyperthermia Type 1 , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
100 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

DNM2, RYR1, MTM1, BIN1, MYF6
Specificity
20 %
Genes
100 %
Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3
Specificity
25 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Multiminicore Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SELENON, RYR1
Specificity
50 %
Genes
100 %
Malignant Hyperthermia Susceptibility: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
100 %

Alternate names

Minicore Myopathy With External Ophthalmoplegia Is also known as minicore myopathy, multicore myopathy, multiminicore myopathy multicore myopathy with external ophthalmoplegia, multiminicore disease with external ophthalmoplegia;.



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