Gene table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

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)