Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference8 articles.
1. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999
2. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc Natl Acad Sci USA,1999
3. The complete primary structure of human nebulin and its correlation to muscle structure;Labeit;J Mol Biol,1995
4. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy;Salmikangas;Hum Mol Gen,1999
5. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1;Laing;Nat Genet,1995
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5. Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study;Orphanet Journal of Rare Diseases;2023-11-30
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