Alpha B crystalline myopathy (Q84641)

Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.