Congenital myopathies
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference28 articles.
1. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis;Wallgren-Pettersson;Neuromuscul Disord,1995
2. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc Natl Acad Sci USA,1999
3. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999
4. Actin mutations are one cause of congenital fibre type disproportion;Laing;Ann Neurol,2004
5. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1;Laing;Am J Hum Genet,1992
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review;Pediatric Neurology;2014-08
2. Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations;Skeletal Muscle;2014-08-01
3. Disorders of Skeletal Muscle;Neurology in Clinical Practice;2012
4. Developmental Disorders of Muscle;Nelson Textbook of Pediatrics;2011
5. Disorders of Skeletal Muscle;Neurology in Clinical Practice;2008
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