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.

@article{Bueno1995ACM,
  title={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.},
  author={M. R. Bueno and E. Moreira and M. Vainzof and J. Chamberlain and S. K. Marie and L. Pereira and J. Akiyama and S. Roberds and K. Campbell and M. Zatz},
  journal={Human molecular genetics},
  year={1995},
  volume={4 7},
  pages={
          1163-7
        }
}
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), the 2p (LGMD2b), the 13q locus (LGMD2c) and the adhalin gene on chromosome 17q… Expand
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References

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