CRYAB-related myofibrillar myopathy; myofibrillar myopathy fatal infantile hypertonic CRYAB; myofibrillar myopathy fatal infantile hypertonic alpha-B crystallin-related

Genetics

• associated with defects in CRYAB

Clinical manifestations

• onset in the first weeks of life after a normal neonatal period
• affected infants show rapidly progressive muscular rigidity of the trunk & limbs associated with increasing respiratory difficulty resulting in death before age 3 years

More general terms

• genetic disease of muscle (inherited myopathy)
• myofibrillar myopathy

Database

• OMIM: https://mirror.omim.org/entry/613869