Article
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD - 1 Dec 1996
Mahjneh I, Passos-Bueno M R, Zatz M, Vainzof M, Marconi G, Nashef L, Bashir R, Bushby K
Abstract excerpt
This study reports on a detailed clinical, electrophysiological, muscle computed tomography (CT) and laboratory investigation carried out on five families with definite linkage to chromosome 2p. Some clinical and laboratory features were common to most of the patients, such as the very high serum creatine kinase (CK) levels (mean 43.70 times the normal). The onset was most frequently in the late teens or early...
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