Article
Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
Neuromuscular disorders : NMD - 1 Dec 2003
Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel L M, Hentati F
Abstract excerpt
Limb-girdle muscular dystrophy type 2C is an autosomal recessive muscular disorder caused by mutations in the gene encoding the gamma-sarcoglycan subunit. This gamma-sarcoglycanopathy is prevalent in Tunisia where only one homozygous mutation a 521-T deletion has been identified. The aim of this study was to carry out a comparative clinical and immunocytochemical analysis of Tunisian patients sharing the same...
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