|
Muscular dystrophy, congenital merosin‐deficient, 1A (MDC1A)
|
LAMA2
|
AR
|
6
|
7
|
7
|
14
|
7
|
6
|
|
Muscular dystrophy, Duchenne type (DMD)
|
DMD
|
XL
|
69
|
115
|
103
|
169
|
57
|
48
|
|
Muscular dystrophy, limb‐girdle, type 2A (LGMD2A)
|
CAPN3
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Muscular dystrophy, limb‐girdle, type 2S (LGMD2S)
|
TRAPPC11
|
AR
|
1
|
1
|
2
|
2
|
2
|
2
|
|
Muscular dystrophy–dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MDDGA5)
|
FKRP
|
AR
|
1
|
3
|
3
|
3
|
1
|
1
|
|
Muscular dystrophy–dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
|
FKTN
|
AR
|
2
|
2
|
2
|
3
|
2
|
2
|
|
Myoglobinuria, acute recurrent, autosomal recessive
|
LPIN1
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myopathy, areflexia, respiratory distress, and dysphagia, early‐onset (EMARDD)
|
MEGF10
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myopathy, centronuclear, X‐linked (CNMX)
|
MTM1
|
XL
|
5
|
6
|
4
|
6
|
4
|
4
|
|
Myopathy, myofibrillar, 1 (MFM1)
|
DES
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myotonia congenita, autosomal dominant
|
CLCN1
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Myotonic dystrophy 1 (DM1)
|
DMPK
|
AD
|
94
|
147
|
107
|
188
|
55
|
46
|
|
Myotonic dystrophy 2 (DM2)
|
CNBP
|
AD
|
1
|
2
|
2
|
4
|
2
|
2
|
|
Nail–patella syndrome (NPS)
|
LMX1B
|
AD
|
3
|
4
|
3
|
4
|
1
|
1
|
|
Nemaline myopathy 2 (NEM2)
|
NEB
|
AR
|
6
|
6
|
6
|
10
|
3
|
3
|
|
Nephrotic syndrome, type 1 (NPHS1)
|
NPHS1
|
AR
|
1
|
3
|
3
|
7
|
1
|
0
|
|
Nephrotic syndrome, type 2 (NPHS2)
|
NPHS2
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Nephrotic syndrome, type 5
|
LAMB2
|
AR
|
1
|
2
|
2
|
4
|
2
|
1
|
|
Neurofibromatosis, type I (NF1)
|
NF1
|
AD
|
51
|
90
|
80
|
123
|
46
|
41
|
|
Neurofibromatosis, type II (NF2)
|
NF2
|
