The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

  title={The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.},
  author={Satu Sandell and Sanna Huovinen and Jaakko Sarparanta and Helena Luque and Olayinka Raheem and Hannu Kalervo Haapasalo and Peter Hackman and Bjarne A. Udd},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  volume={81 8},
INTRODUCTION Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has remained elusive. METHODS A large Finnish family was clinically and genetically investigated. Laboratory parameters were determined, including creatine kinase (CK) value, neurographic… CONTINUE READING
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