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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-01-2014
Symbol MMFIH
Location 11q23.1
Name myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
Corresponding gene CRYAB
Main clinical features
  • fatal infantile hypertonic myofibrillar myopathy with onset in the first weeks of life after a normal neonatal period
  • rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease