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HGMD

HGNC

GENATLAS PHENOTYPE

last update : 2/06/2006

Symbol	LGMD1A
Location	5q31.2
HGNC id	6574
Name	limb girdle muscular dystrophy type 1A
Other name(s)	muscular dystrophy, proximal, type 1A
Corresponding gene	MYOT
Other symbol(s)	LGMD1
Main clinical features	characterized by progressive proximal weakness with/without proximal arm weakness, absentankle deep-tendon reflexes and elevated creatine-kinase values, with evidence for anticipation
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	myotilin (TTID)

Remark(s)