Article
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Human molecular genetics - 1 Jul 1995
Bueno M R, Moreira E S, Vainzof M, Chamberlain J, Marie S K, Pereira L, Akiyama J, Roberds S L, Campbell K P, Zatz M
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability, classified phenotypically into two main groups, the most severe forms (Duchenne-like muscular dystrophy, DLMD, or severe childhood autosomal recessive muscular dystrophy, SCARMD) and the milder forms. Four genes causing AR LGMD have been mapped: the 15q (LGMD2a),...
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