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GENATLAS PHENOTYPE

last update : 14-12-2021

Symbol	LGMD2C
Location	13q12.12
Name	limb girdle muscular dystrophy 2C
Other name(s)	muscular dystrophy, Duchenne-like adhalin deficiency, secondary
Corresponding gene	SGCG
Other symbol(s)	SCARMD, SCARMD1
Main clinical features	characterized by early onset, symmetrical weakness, atrophy of the proximal limb and trunck muscles onset before age 5 years, confinement to wheelchair by 12 years, and death usually before age 20 years associated with ECG abnormalities and myocardial right ventricle involvement, severe course, Tunisian (Maghrebin) form (adhalinopathy, secondary to SGCG, gamma sarcoglycan defect)
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	sarcoglycan, gamma, 35kD (SGCG)

Remark(s)