Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

@article{Laing1992AssignmentOA,
  title={Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.},
  author={Nigel G Laing and Bernadette T. Majda and Patrick A. Akkari and Melissa Layton and John C. Mulley and Henry Phillips and Eric Haan and Stefan J White and Alan H. Beggs and Louis M. Kunkel},
  journal={American journal of human genetics},
  year={1992},
  volume={50 3},
  pages={576-83}
}
Nemaline myopathy (NEM) is a neuromuscular disorder characterized by the presence, in skeletal muscle, of nemaline rods composed at least in part of alpha-actinin. A candidate gene and linkage approach was used to localize the gene (NEM1) for an autosomal dominant form (MIM 161800) in one large kindred with 10 living affected family members. Markers on chromosome 19 that were linked to the central core disease gene, a marker at the complement 3 locus, and a marker on chromosome 1 at the alpha… CONTINUE READING

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