Nemaline Myopathy 11, Autosomal Recessive; Nem11

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Genes related to Nemaline Myopathy 11, Autosomal Recessive; Nem11

MYPN

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Clinical Features

Top most frequent phenotypes and symptoms related to Nemaline Myopathy 11, Autosomal Recessive; Nem11

Muscle weakness
High palate
Gait disturbance
Dysphagia
Talipes equinovarus
Respiratory insufficiency
Cardiomyopathy
Myopathy
Pectus excavatum
Pes cavus

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nemaline Myopathy 11, Autosomal Recessive; Nem11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...) View the complete list with 86 more genes Panel complete gene list RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, CASQ2, CAV3, CBL, SHOC2, LDB3, ANKRD1, MYLK2, ACTN2, SLMAP, HCN4, NEBL, RANGRF, TRPM4, FKRP, MTO1, SCN3B, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, AGL, EMD, FKTN, FHL1, AKAP9, GAA, ALMS1, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...) View the complete list with 31 more genes Panel complete gene list RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL, MYPN, DOLK, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, GLA, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...) View the complete list with 92 more genes Panel complete gene list RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNB2, JPH2, ACTC1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, HCN4, NEBL, TRPM4, TXNRD2, SPRED1, SCN3B, PDLIM3, COL3A1, COL5A1, COL5A2, COX15, MYPN, CRYAB, CSRP3, CTF1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GAA, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, SMAD3, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NRAS, PKP2, PLN, PLOD1, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Dilated Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, TXNRD2, PDLIM3, MYPN , (...) View the complete list with 24 more genes Panel complete gene list SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, TXNRD2, PDLIM3, MYPN, CRYAB, CSRP3, CTF1, RBM20, DES, DMD, NEXN, GATAD1, DSG2, DSP, EMD, EYA4, FKTN, ABCC9, ILK, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN, BAG3, RAF1 Specificity 3 % Genes 100 %
Hypertrophic Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15 , (...) View the complete list with 16 more genes Panel complete gene list SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15, MYPN, CSRP3, NEXN, FXN, GAA, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, RAF1 Specificity 3 % Genes 100 %
Dilated Cardiomyopathy Panel (30 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES , (...) View the complete list with 10 more genes Panel complete gene list SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN, BAG3 Specificity 4 % Genes 100 %
Comprehensive Cardiomyopathy Panel (37 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCN5A, SCO2, SGCD, SURF1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, CAV3, LDB3, ANKRD1, ACTN2, NEBL, MYPN , (...) View the complete list with 17 more genes Panel complete gene list SCN5A, SCO2, SGCD, SURF1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, CAV3, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, BAG3 Specificity 3 % Genes 100 %
DCM and DMD related Cardiomyopathy. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES , (...) View the complete list with 11 more genes Panel complete gene list SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES, DMD, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN, BAG3 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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