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

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
-