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OMIM

Gene

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HGMD

HGNC

GENATLAS PHENOTYPE

last update : 22/05/2006

Symbol	LGMD2J
Location	2q24.3
Name	limb-girdle muscular dystrophy type 2J
Corresponding gene	TTN
Main clinical features	nonspecific myopathic changes on muscle biopsy and progressive fatty infiltration of muscles, onset in the first to third decades with weakness of all proximal muscles, severe disability with loss of ambulation occurred within 20 years (third to sixth decades), no facial muscle involvement or cardiomyopathy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name

titin