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McArdle disease: a novel mutation in Jewish families from the Caucasus region.

Abstract
McArdle disease is caused by a myophosphorylase deficiency consequent to defects in the PYGM gene. A minority of the over-133 known mutations are associated with ethnicity, occurring mainly in patients from western Europe, the United States, and Japan. We identified a novel mutation, c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region. This possibly ethnicity-associated mutation can significantly facilitate the diagnosis in Jews of the Caucasus and contribute to genetic consultations.
AuthorsYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, Menachem Sadeh, Ron Dabby, Yael Weintraub, Ben Pode-Shakked, Avraham Zeharia, Yair Anikster
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 106 Issue 3 Pg. 379-81 (Jul 2012) ISSN: 1096-7206 [Electronic] United States
PMID22608882 (Publication Type: Journal Article)
CopyrightCopyright © 2012 Elsevier Inc. All rights reserved.
Chemical References
  • Glycogen Phosphorylase, Muscle Form
Topics
  • Adult
  • Azerbaijan (ethnology)
  • Base Sequence
  • Dagestan (ethnology)
  • Glycogen Phosphorylase, Muscle Form (genetics)
  • Glycogen Storage Disease Type V (ethnology, genetics)
  • Humans
  • Jews (genetics)
  • Molecular Sequence Data
  • Mutation
  • Young Adult

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