Preferred Label : Myopathy, myofibrillar, 2b, infantile-onset;
Symbol : MFM2B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mfm, fatal infantile hypertonic, alpha-b crystallin-related; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related;
Description : Fatal infantile hypertonic myofibrillar myopathy 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 (summary
by Del Bigio et al., 2011).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0005);
Laboratory abnormalities : Increased serum creatine kinase;
Prefixed ID : #613869;
Origin ID : 613869;
UMLS CUI : C5190691;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)