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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)379-381
Number of pages3
JournalMolecular Genetics and Metabolism
Volume106
Issue number3
DOIs
StatePublished - Jul 2012

Keywords

  • Ethnicity
  • McArdle disease
  • Mutation
  • Myophosphorylase deficiency

Fingerprint

Dive into the research topics of 'McArdle disease: A novel mutation in Jewish families from the Caucasus region'. Together they form a unique fingerprint.

Cite this