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Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

  • Published:2013-01 Issue:1 Volume:23 Page:43-51
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Birch Kathryn E.,Quinlivan Ros M.,Morris Glenn E.

Funder

the Association for Glycogen Storage Disease (UK)

the Muscular Dystrophy Association (USA)

the Oswestry Institute of Orthopaedics

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference44 articles.

1. Myopathy due to a defect in muscle glycogen breakdown;McArdle;Clin Sci,1951

2. Physical training for McArdle disease;Quinlivan;Cochrane Database Syst Rev,2011

3. McArdle disease: a clinical review;Quinlivan;J Neurol Neurosurg Psychiatry,2010

4. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations;Vieitez;Neuromuscul Disord,2011

5. McArdle’s disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases;Bartram;Hum Mol Genet,1993

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