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.
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Authors | Yishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, Menachem Sadeh, Ron Dabby, Yael Weintraub, Ben Pode-Shakked, Avraham Zeharia, Yair Anikster |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
Vol. 106
Issue 3
Pg. 379-81
(Jul 2012)
ISSN: 1096-7206 [Electronic] United States |
PMID | 22608882
(Publication Type: Journal Article)
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Copyright | Copyright © 2012 Elsevier Inc. All rights reserved. |
Chemical References |
- Glycogen Phosphorylase, Muscle Form
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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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