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GENATLAS PHENOTYPE

last update : 24-01-2009

Symbol	TMDT
Location	2q31
Name	tibial muscular dystrophy, onset in the early 40 years
Other name(s)	UDD myopathy
Corresponding gene	TTN
Main clinical features	late adult-onset, distal myopathy with onset in the anterior compartment of the legs rather than in the hands, with cardiomyopathy muscle biopsies showed nonspecific dystrophic changes in clinically affected muscles and severe adipose replacement in the anterior tibial muscles
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name

titin

Remark(s)