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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
General
genetic disease of muscle (inherited myopathy)
myofibrillar myopathy
Database Correlations
OMIM 613869
References
OMIM :accession 613869