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GENATLAS PHENOTYPE

last update : 01-04-2009

Symbol	EOMFC
Location	2q31
Name	early-onset myopathy with fatal cardiomyopathy
Corresponding gene	TTN
Main clinical features	congenital myopathy and fatal dilated cardiomyopathy delayed motor development with symmetric, generalized muscle weakness predominantly of proximal and distal lower limbs cardiac muscle biopsies showed disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis skeletal muscle biopsies showed minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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