Article
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.
Neuromuscular disorders : NMD - 1 Jan 2001
Mahjneh I, Marconi G, Bushby K, Anderson L V, Tolvanen-Mahjneh H, Somer H
Abstract excerpt
The limb-girdle muscular dystrophies are a group of inherited neuromuscular disorders which are clinically and genetically heterogeneous. We have been able to carry out a follow-up study on 10 patients from a large Palestinian family with a confirmed mutation in the dysferlin gene. These patients have been followed for more than 23 years since the onset of the disease. They all had normal developmental...
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