Table 1.
Gene Symbol | Neuromuscular Disorder(s) (MIM1 Number When Available) |
---|---|
BAG3 | MFM6 (#612954); CMD1HH (#613881); CMT2 |
CCT5 | Hereditary sensory neuropathy with spastic paraplegia (#256840) |
CRYAB | MFM2 (#608810); CMD1II (#615184); Fatal infantile hypertonic myofibrillar myopathy (#613869) |
DNAJB2 | DSMA5 (#614881); CMT2 |
DNAJB6 | LGMD D1 DNAJB6-related (#603511); Distal myopathy with rimmed vacuoles |
HSPB1 | dHMN2B (#608634); CMT2F (#606595) |
HSPB3 | dHMN2C (#613376); CMT2; (neuro)myopathy |
HSPB8 | dHMN2A (#158590); CMT2L (#608673); Neuromyopathy with rimmed vacuoles |
HSPD1 | Spastic paraplegia 13, autosomal dominant (#605280) |
SACS | Spastic ataxia, Charlevoix–Saguenay type (#270550) |
SIL1 | Marinesco–Sjögren syndrome (#248800) |
STUB1 | Spinocerebellar ataxia, autosomal recessive 16 (#615768) |
TOR1A | Torsion dystonia, early onset (#128100) |
VCP | Scapuloperoneal muscular dystrophy and dropped head syndrome; Distal myopathy; IBMPFD (# 167320); ALS14 (#613954); CMT2Y (#616687) |
VMA21 | X-linked myopathy with excessive autophagy (XMEA) (#310440) |
1 MIM, Mendelian Inheritance in Man (www.omim.org).