Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy-Reference-Cited by-同舟云学术

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Published:1999-03-02 Issue:5 Volume:96 Page:2305-2310
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Pelin K.,Hilpela P.,Donner K.,Sewry C.,Akkari P. A.,Wilton S. D.,Wattanasirichaigoon D.,Bang M.-L.,Centner T.,Hanefeld F.,Odent S.,Fardeau M.,Urtizberea J. A.,Muntoni F.,Dubowitz V.,Beggs A. H.,Laing N. G.,Labeit S.,de la Chapelle A.,Wallgren-Pettersson C.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference18 articles.

1. Genetics of the nemaline myopathies and the myotubular myopathies

2. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

3. A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

4. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

5. Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

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