Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1

Nemaline myopathy (NEM) is a neuromuscular disorder characterized by the presence, in skeletal muscle, of nemaline rods composed at least in part of α-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...

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Autors principals: Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumberg, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A.
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684287/
https://ncbi.nlm.nih.gov/pubmed/1347195
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