Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference45 articles.
1. Nebulin: the nebulous, multifunctional giant of striated muscle;McElhinny;Trends Cardiovasc. Med.,2003
2. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc. Natl. Acad. Sci. U. S. A.,1999
3. Mutations in the beta-tropomyosin (TPM2) gene—a rare cause of nemaline myopathy;Donner;Neuromuscul. Disord.,2002
4. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy;Laing;Nat. Genet.,1995
5. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat. Genet.,1999
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4. Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations;Clinical Genetics;2022-10-03
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