Hypertonic myofibrillar myopathy
Disease Term | Disease ID | Gene Symbol | References |
---|---|---|---|
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED | C3151236 | CRYAB | 21337604 |
Fatal infantile hypertonic myofibrillar myopathy | 280553 | CRYAB |