Article
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
Human molecular genetics - 1 Aug 1996
Nigro V, Piluso G, Belsito A, Politano L, Puca A A, Papparella S, Rossi E, Viglietto G, Esposito M G, Abbondanza C, Medici N, Molinari A M, Nigro G, Puca G A
Abstract excerpt
Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human...
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