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Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

  • Published:1993-03 Issue:1 Volume:115 Page:91-94
  • ISSN:0022-510X
  • Container-title:Journal of the Neurological Sciences
  • language:en
  • Short-container-title:Journal of the Neurological Sciences

Author:

Manfredi Giovanni,Silvestri Gabriella,Servidei Serenella,Ricci Enzo,Mirabella Massimiliano,Bertini Enrico,Papacci Manuela,Rana Michele,Tonali Pietro

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. Dominant inheritance of McArdle's syndrome;Chui;Arch. Neurol.,1976

2. Debrancher deficiency: neuromuscular disorder in five adults;Di Mauro;Ann. Neurol.,1987

3. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency);Gautron;Am. J. Clin. Invest.,1987

4. Adult and infantile glycogenosis type II in one family, explained by allelic diversity;Hoefsloot;Am. J. Hum. Genet.,1990

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

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