Article
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Neuromuscular disorders : NMD - 1 Jan 2008
Lo Harriet P, Cooper Sandra T, Evesson Frances J, Seto Jane T, Chiotis Maria, Tay Valerie, Compton Alison G, Cairns Anita G, Corbett Alistair, MacArthur Daniel G, Yang Nan, Reardon Katrina, North Kathryn N
Abstract excerpt
We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence analysis. Calpainopathies (8%) and dysferlinopathies (5%) are the most common causes of LGMD in Australia. In contrast to European populations, cases of LGMD2I (due to mutations in FKRP) are rare in Australasia (3%). We have identified a cohort of...
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