Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
MATR3 matrin 3

 | 5q31 | * Myopathy, distal 2 - MPD2 (4.5)
|
MED25 mediator complex subunit 25

 | 19q13 | * Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.52)
|
MFN2 mitofusin 2

 | 1p36.22 | * Hereditary motor and sensory neuropathy 2A - CMT2A (14.36)
|
MPZ myelin protein zero

 | 1q22 | * Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
|
MRE11A MRE11 meiotic recombination 11 homolog A

 | 11q21 | * ataxia telangiectasia-like disorder - ATLD (13.53)
|
MRPL3 mitochondrial ribosomal protein L3

 | 3q21-q23 | * Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect - (10.25)
|
MTM1 myotubularin

 | Xq28 | * Myotubular myopathy, X-linked - MTM1 (3.14)
|
MTMR2 myotubularin-related protein 2

 | 11q22 | * Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.16)
|
MTTP microsomal triglyceride transfer protein

 | 4q23 | * abetalipoproteinemia - ABL (13.57)
|
MURC muscle-related coiled-coil protein

 | 9q11.1 | * Dilated cardiomyopathy with MURC defect - (10.65)
|
MUSK skeletal muscle receptor tyrosine kinase

 | 9q31.3-q32 | * Congenital myasthenic syndrome with MuSK deficiency - CMS1B (11.14)
|
MYBPC3 cardiac myosin binding protein-C

 | 11p11.2 | * Dilated cardiomyopathy with MYBPC3 defect - (3.32, 10.4, 10.52) * congenital skeletal myopathy and fatal cardiomyopathy - (3.32, 10.4, 10.52)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.32, 10.4, 10.52)
* Cardimyopathy, dilated, 1A - CMD1A (3.32, 10.4, 10.52)
|
MYH2 myosin, heavy polypeptide 2, skeletal muscle

 | 17p13.1 | * Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.25, 3.26)
|
MYH3 myosine, heavy chain 3, skeletal muscle, embryonic

 | 17p13 | * Arthrogryposis, distal, type 2A - DA2A (16.9, 16.12)
* Arthrogryposis, distal, type 2B - DA2B (16.9, 16.12)
|
MYH6 myosin heavy chain 6

 | 14q12 | * Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.62)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.62)
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.62)
|
MYH7 myosin, heavy polypeptide 7, cardiac muscle, beta

 | 14q12 | * Myopathy, distal 1 - MPD1 (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* Myosin storage myopathy - (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* Cardiomyopathy, dilated, 1S - CMD1S (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
|
MYH8 Myosin heavy chain, 8, skeletal muscle, perinatal

 | 17p13 | * Myosin, heavy chain, perinatal - MYH8 (16.15)
|
MYL2 myosin light chain 2

 | 12q23-q24.3 | * Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
|
MYL3 myosin light chain 3

 | 3p21.3-p21.2 | * Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
|
MYLK2 myosin light chain kinase 2

 | 20q13.31 | * cardiomyopathy, familial hypertrophic - CMH (10.15)
|
MYOT myotilin

 | 5q31 | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.11, 4.9, 5.6, 5.7)
* Spheroid body myopathy - (1.11, 4.9, 5.6, 5.7)
* Myofibrillar myopathy, myotilin related - MFM3 (1.11, 4.9, 5.6, 5.7)
|
MYOZ2 myozenin 2, or calsarcin 1, a Z disk protein

 | 4q26 | * Hypertrophic cardiomyopathy with myozenin 2 defect - (10.18)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.18)
|
MYPN myopalladin

 | 10q21.1 | * Dilated cardiomyopathy due to myopalladin defect - (10.58)
|