Article
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Journal of medical genetics - 1 Feb 1996
Passos-Bueno M R, Moreira E S, Marie S K, Bashir R, Vasquez L, Love D R, Vainzof M, Iughetti P, Oliveira J R, Bakker E, Strachan T, Bushby K, Zatz M
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a group of muscle diseases with a wide spectrum of clinical signs, varying from very severe to mild. Four different loci that when mutated cause the AR LGMD phenotype have been mapped or cloned or both: in two of them the linked families seem to have a relatively mild phenotype (LGMD2a and LGMD2b), in the third one the reported linked...
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