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GENATLAS PHENOTYPE

last update : 28-03-2012

Symbol	LGMD2D
Location	17q21
Name	limb girdle muscular dystrophy 2D
Other name(s)	Duchenne-like autosomal recessive muscular dystrophy, type 2 adhalinopathy, primary
Corresponding gene	SGCA
Other symbol(s)	SCARMD2, DMDA2
Main clinical features	early onset, symetrical weakness, atrophy of the proximal limb and trunk muscles, with/without cardiomyopathy (adhalinopathy) age of onset is variable, although, in most cases, first symptoms appear around the 20s, and progression of muscle weakness is also variable
Genetic determination	autosomal recessive
Related entries	incuding cases of congenital muscular dystrophy
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	sarcoglycan, alpha, 50kD (SGCA)

Remark(s)

R77C allele encodes a protein that fails to be delivered to its proper cellular localization in the plasma membrane, and consequently to the disappearance of a positively charged residue