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

Yishai Haimi Cohen; Nechama Shalva; Tal Markus-Eidlitz; Menachem Sadeh; Ron Dabby; Yael Weintraub; Ben Pode-Shakked; Avraham Zeharia; Yair Anikster

doi:10.1016/j.ymgme.2012.04.012

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

^*Corresponding author for this work

Schneider Childrens Medical Center Israel
Sheba Medical Center at Tel Hashomer
Tel Aviv University
Edith Wolfson Medical Center Israel

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	379-381
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	106
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2012.04.012
State	Published - Jul 2012

Keywords

Ethnicity
McArdle disease
Mutation
Myophosphorylase deficiency

Access to Document

10.1016/j.ymgme.2012.04.012

Cite this

@article{5b3595516b0740c695e6cae8541cd388,

title = "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.",

keywords = "Ethnicity, McArdle disease, Mutation, Myophosphorylase deficiency",

author = "\{Haimi Cohen\}, Yishai and Nechama Shalva and Tal Markus-Eidlitz and Menachem Sadeh and Ron Dabby and Yael Weintraub and Ben Pode-Shakked and Avraham Zeharia and Yair Anikster",

year = "2012",

month = jul,

doi = "10.1016/j.ymgme.2012.04.012",

language = "אנגלית",

volume = "106",

pages = "379--381",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "3",

}

TY - JOUR

T1 - McArdle disease

T2 - A novel mutation in Jewish families from the Caucasus region

AU - Haimi Cohen, Yishai

AU - Shalva, Nechama

AU - Markus-Eidlitz, Tal

AU - Sadeh, Menachem

AU - Dabby, Ron

AU - Weintraub, Yael

AU - Pode-Shakked, Ben

AU - Zeharia, Avraham

AU - Anikster, Yair

PY - 2012/7

Y1 - 2012/7

N2 - 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.

AB - 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.

KW - Ethnicity

KW - McArdle disease

KW - Mutation

KW - Myophosphorylase deficiency

UR - https://www.scopus.com/pages/publications/84862557951

U2 - 10.1016/j.ymgme.2012.04.012

DO - 10.1016/j.ymgme.2012.04.012

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

AN - SCOPUS:84862557951

SN - 1096-7192

VL - 106

SP - 379

EP - 381

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this