What’s new in congenital myopathies?
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference67 articles.
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2. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy;Tan;Neuromusc Disord,1999
3. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc Nat Acad Sci USA,1999
4. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999
5. Mutations in the beta-tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy;Donner;Neuromusc Disord,2000
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