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GENATLAS PHENOTYPE

last update : 19-05-2010

Symbol	EBSMD
Location	8q24.3
Name	epidermolysis bullosa simplex and limb-girdle muscular dystrophy
Corresponding gene	PLEC
Other symbol(s)	MDEBS, EB-MD
Main clinical features	with/without neurodegenerative disorder and other multisystem involvement later in life, associated or not with adult-onset dilated cardiomyopathy
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Gene product

Name	plectin (PLEC1)

Remark(s)