Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)