A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

@article{Bashir1998AGR,
  title={A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B},
  author={Rumaisa Bashir and Stephen Britton and Tom Strachan and Sharon M. Keers and Elizabeth Vafiadaki and Majlinda Lako and Isabelle Richard and Sylvie Marchand and Nathalie Bourg and Zohar Argov and Menachem Sadeh and Ibrahim Mahjneh and Giampiero Marconi and Maria Rita Santos Passos-Bueno and Elo{\'i}sa de S{\'a} Moreira and Mayana Zatz and Jacques S. Beckmann and Katharine M. D. Bushby},
  journal={Nature Genetics},
  year={1998},
  volume={20},
  pages={37-42}
}
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex; another form is caused by mutations in the gene for the muscle-specific protease calpain 3. Using a positional cloning approach, we have… CONTINUE READING

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