Myosclerosis, Autosomal Recessive

Description

Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.

Clinical Features

Top most frequent phenotypes and symptoms related to Myosclerosis, Autosomal Recessive

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase
  • Facial palsy
  • Proximal muscle weakness
  • Hyperlordosis
  • Distal muscle weakness
  • Limb muscle weakness
And another 9 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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Myosclerosis, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...)

View the complete list with 3 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 %
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 %
Limb-Girdle Muscular Dystrophy.

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

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
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 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 %
Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
COL6A2. Complete sequencing.

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

COL6A2
Specificity
100 %
Genes
100 %
COL6A2. Complete sequencing.

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

COL6A2
Specificity
100 %
Genes
100 %
Ullrich congenital muscular dystrophy (NGS panel for 3 genes).

By CGC Genetics in Portugal.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Bethlem myopathy (NGS panel of 3 genes).

By CGC Genetics in Portugal.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Ullrich congenital muscular dystrophy (sequence analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
Genes
100 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Bethlem myopathy (deletions/duplications analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
Genes
100 %
Bethlem myopathy (deletions/duplications analysis of COL6A2 gene).

By CGC Genetics in Portugal.

COL6A2
Specificity
100 %
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 %
Type VI-Related Collagenopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Congenital Muscular Dystrophy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Type VI Collagenopathy via the COL6A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL6A2
Specificity
100 %
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 %
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Ullrich muscular dystrophy, Bethlem muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Ullrich congenital muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

COL6A2, COL6A3, COL6A1
Specificity
34 %
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 %
Collagen Type VI-Related Disorders.

By MGZ Medical Genetics Center in Germany.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

COL6A2, COL6A3, COL6A1, FKBP14, TNXB, COL12A1, PIEZO2
Specificity
15 %
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 %
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 %
Bethlem Panel.

By FirmaLab in United States.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Bethlem myopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Ullrich congenital muscular dystrophy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
Specificity
100 %
Genes
100 %
Myosclerosis, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
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 %
Ullrich muscular dystrophy panel.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Bethlem myopathy.

By Centogene AG - the Rare Disease Company in Germany.

COL6A2
Specificity
100 %
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 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Bethlem myopathy.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
BM/UCMD gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
COL6A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL6A2
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 Type VI Collagenopathy Panel.

By Invitae in United States.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Congenital Muscular Dystrophy Panel.

By Invitae in United States.

DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 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 %
DYSTROPHIES, CONGENITAL MUSCULAR.

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

FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
9 %
Genes
100 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2
Specificity
100 %
Genes
100 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A2
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 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
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 %
Type VI Collagenopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
COL6A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL6A2
Specificity
100 %
Genes
100 %
Collagen Type VI-Related Disorders Panel.

By Blueprint Genetics in Finland.

COL6A2, COL6A3, COL6A1, COL4A1, COL12A1, COL4A2
Specificity
17 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

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

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Bethlem Myopathy.

By Bioarray in Spain.

COL6A2
Specificity
100 %
Genes
100 %
Ullrich Congenital Muscular Dystrophy.

By Bioarray in Spain.

COL6A2
Specificity
100 %
Genes
100 %
BETHLEM MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
MUSCULAR DYSTROPHY, ULLRICH.

By Laboratorio de Genetica Clinica SL in Spain.

COL6A2, COL6A3, COL6A1
Specificity
34 %
Genes
100 %
Ullrich Congenital Muscular Dystrophy , Sequencing COL6A2 Gene.

By Reference Laboratory Genetics in Spain.

COL6A2
Specificity
100 %
Genes
100 %
Myopathy Type Bethlem, Sequencing COL6A2 Gene.

By Reference Laboratory Genetics in Spain.

COL6A2
Specificity
100 %
Genes
100 %
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
9 %
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 %
Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %
Ullrich Congenital Muscular Dystrophy , Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes.

By Reference Laboratory Genetics in Spain.

COL6A2, COL6A3, COL6A1, COL12A1
Specificity
25 %
Genes
100 %

Alternate names

Myosclerosis, Autosomal Recessive Is also known as myopathy, myosclerotic, myosclerosis, congenital, of lowenthal;congenital myosclerosis, löwenthal type.



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