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Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

  • Published:1995-07 Issue:4 Volume:5 Page:263-266
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Tsujino Seiichi,Shanske Sara,Carroll James E.,Sabina Richard L.,Dimauro Salvatore

Publisher

Elsevier BV

Subject

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

Reference18 articles.

1. Nonlysosomal glycogenoses;DiMauro,1994

2. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase;Burke;Proteins,1987

3. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11;Lebo;Science,1984

4. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease);Tsujino;New Engl J Med,1993

5. Three new mutations in patients with myophosphorylase deficiency (McArdle disease);Tsujino;Am J Hum Genet,1994

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