Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
MATR3
5q31
 | Myopathy, distal 2 -MPD2 |
MFN2
mitofusin 2
1p36.22
| Hereditary motor and sensory neuropathy 2A -CMT2A |
MPZ
myelin protein zero
1q22
| Charcot-Marie-Tooth disease, type 1B -CMT1B |
| Dejerine-Sottas syndrome -DSS |
| Neuropathy, congenital hypomyelinating -CMT4E |
| Charcot-Marie-Tooth disease, type 2I -CMT2I |
| Charcot-Marie-Tooth disease, type 2J -CMT2J |
| Charcot-Marie-Tooth disease, dominant intermediate D -CMTDID |
MRE11A
MRE11 meiotic recombination 11 homolog A
11q21
| ataxia telangiectasia-like disorder -ATLD |
MTM1
myotubularin
Xq28
| Myotubular myopathy, X-linked -MTMX |
MTMR14
3p25.3
| centronuclear myopathy, autosomal, modifier of, included - |
MTMR2
myotubularin-related protein 2
11q22
| Charcot-Marie-Tooth disease, type 4B1 -CMT4B1 |
MTTP
microsomal triglyceride transfer protein
4q23
| abetalipoproteinemia -ABL |
MUSK
skeletal muscle receptor tyrosine kinase
9q31.3-q32
| Congenital myasthenic syndrome with MuSK deficiency -CMS1B |
MYBPC3
cardiac myosin binding protein-C
11p11.2
| Cardiomyopathy, familial hypertrophic, 4 -CMH4 |
| congenital skeletal myopathy and fatal cardiomyopathy - |
MYH2
17p13.1
| Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles -IBM3 |
MYH3
myosine, heavy chain 3, skeletal muscle, embryonic
17p13
| Arthrogryposis, distal, type 2A -DA2A |
| Arthrogryposis, distal, type 2B -DA2B |
MYH6
myosin heavy chain 6
14q12
| Cardiomyopathy, familial hypertrophic -CMH |
| Asymetric septal hypertrophy, hereditary -ASH |
MYH7
myosin, heavy polypeptide 7, cardiac muscle, beta
14q12
| Cardiomyopathy, dilated, 1A -CMD1A |
| Cardiomyopathy, dilated, 1S -CMD1S |
| Myopathy, distal 1 -MPD1 |
| cardiomyopathy, dilated, 1s, included -CMD1S |
| Familial hypertrophic cardiomyopathy -FHC1 |
| cardiomyopathy, familial hypertrophic, 1, included -CMH1 |
| Myosin storage myopathy -MYH7 |
MYH8
Myosin heavy chain, 8, skeletal muscle, perinatal
17p13
| myosin, heavy chain, perinatal -MYH8 |
MYL2
myosin light chain 2
12q23-q24.3
| Cardiomyopathy, hypertrophic, mid-left ventricular chamber type -MYL2 |
MYL3
myosin light chain 3
3p21.3-p21.2
| Cardiomopathy, hypertrophic, mid-ventricular chamber type -MYL3 |
MYLK2
myosin light chain kinase 2
20q13.31
| cardiomyopathy, familial hypertrophic -CMH |
MYOT
myotilin
5q31
| Muscular dystrophy, proximal, type 1A -LGMD1 |
| Muscular dystrophy, Limb-Girdle, type 1A -LGMD1A |
| Myopathy myofibrillar -MFM |
MYPN
myopalladin
10q21.1