| Actin-Accumulation Myopathy |
C3711389 |
ACTA1
|
15236405, 20179953, 11333380, 10508519, 19562689, 25470062, 27854218, 17705262, 20303757, 12921789, 15336687, 26172852, 24642510, 2462510, 30266093, 24852243, 25938801, 16945537, 16945536, 24787270, 15198992, 15226407, 11166164, 21520333, 22442437, 25214167, 27447704, 2617852, 23650303, 15520409, 16427282, 23394784 |
| Amish nemaline myopathy |
98902 |
TNNT1
|
|
| Childhood-onset nemaline myopathy |
171439 |
TPM2
|
|
|
MYPN
|
|
|
ACTA1
|
|
|
TPM3
|
|
|
NEB
|
|
|
KBTBD13
|
|
|
KLHL41
|
|
| Intermediate nemaline myopathy |
171433 |
TPM3
|
|
|
ACTA1
|
|
|
NEB
|
|
|
KLHL41
|
|
| Nemaline myopathy 1 |
C1836448 |
TPM3
|
24692096, 17376686, 23886664, 10619715, 22749829, 24095155, 7704029, 24507666, 18300303, 26307083, 24642510, 19487656, 20554445, 21357678, 12467750, 24239060, 19553118, 22798622, 27363342, 27854218, 19953533, 10587521 |
| NEMALINE MYOPATHY 10 |
C4015360 |
LMOD3
|
28815944, 25250574, 25774500, 24960163, 26035871, 30291184 |
| NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE |
C4479186 |
MYPN
|
28017374 |
| Nemaline Myopathy 2 |
C1850569 |
NEB
|
25949787, 16917880, 24725366, 26578207, 26403434, 25356970, 26809612, 12207937, 28132693, 25525159, 17525139, 27933661, 27105866, 22367672, 9359044, 24960163, 26841830, 10051637, 26123491, 30517146, 27357428, 25205138, 21724397, 25110572, 25205148, 21520333, 22941678, 23572184, 12207938, 26809617, 19805734, 16902413, 24056153, 26197980, 27854218, 12837582, 25079567 |
|
RIF1
|
26403434, 27105866, 26197980, 27357428, 24056153, 21520333, 25205138, 26809617, 12207938, 19805734, 26809612, 24725366, 25356970 |
| Nemaline myopathy 4 |
C1836447 |
TPM2
|
19345583, 24692096, 19047562, 11738357, 17434307, 17846275, 27854218, 23413262 |
| NEMALINE MYOPATHY 5 |
C1854380 |
TNNT1
|
25430424, 24689076, 10952871, 15665378, 12732643, 27429059 |
| Nemaline myopathy 6 |
C1836472 |
KBTBD13
|
21109227, 12805120 |
| Nemaline Myopathy 7 |
C1853154 |
CFL2
|
17160903, 24598388, 24610938, 22560515, 11422377, 27848944, 22343409, 26996939, 29457652 |
| NEMALINE MYOPATHY 8 |
C3809209 |
KLHL40
|
23746549, 27528495, 27762439, 28973083, 24960163, 26754003, 25721947 |
| NEMALINE MYOPATHY 9 |
C3810384 |
KLHL41
|
24268659, 28939701, 28826497 |
| Nemaline Myopathy, Childhood Onset |
C0546125 |
ACTA1
|
|
|
NEB
|
|
|
TPM2
|
23378224, 23413262 |
|
TPM3
|
7704029 |
|
KLHL41
|
24268659 |
|
MYPN
|
28017374 |
|
KBTBD13
|
21104864 |
| Typical nemaline myopathy |
171436 |
ACTA1
|
|
|
CFL2
|
|
|
TPM2
|
|
|
NEB
|
|
|
KLHL41
|
|
|
LMOD3
|
|
