A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

Antonio L. Andreu, Claudio Bruno, Lucia Tamburino, Josep Gamez, Sara Shanske, Carlos Cervera, Carmen Navarro, Salvatore Dimauro

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)171-173
Number of pages3
JournalNeuromuscular Disorders
Volume9
Issue number3
DOIs
Publication statusPublished - May 1 1999

Fingerprint

Muscle Form Glycogen Phosphorylase
Glycogen Storage Disease Type V
Mutation
Genetic Heterogeneity
Asparagine
Missense Mutation
Heterozygote
Ethnic Groups
Codon
Genes
Tyrosine
Molecular Biology
Exons
Alleles
DNA

Keywords

  • Asn684Tyr
  • McArdle's disease
  • Myophosphorylase

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. / Andreu, Antonio L.; Bruno, Claudio; Tamburino, Lucia; Gamez, Josep; Shanske, Sara; Cervera, Carlos; Navarro, Carmen; Dimauro, Salvatore.

In: Neuromuscular Disorders, Vol. 9, No. 3, 01.05.1999, p. 171-173.

Research output: Contribution to journalArticle

Andreu, AL, Bruno, C, Tamburino, L, Gamez, J, Shanske, S, Cervera, C, Navarro, C & Dimauro, S 1999, 'A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease', Neuromuscular Disorders, vol. 9, no. 3, pp. 171-173. https://doi.org/10.1016/S0960-8966(98)00125-4
Andreu, Antonio L. ; Bruno, Claudio ; Tamburino, Lucia ; Gamez, Josep ; Shanske, Sara ; Cervera, Carlos ; Navarro, Carmen ; Dimauro, Salvatore. / A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. In: Neuromuscular Disorders. 1999 ; Vol. 9, No. 3. pp. 171-173.
@article{c210bcc0bc6647868216a52093872b62,
title = "A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease",
abstract = "We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis. Copyright (C) 1999 Elsevier Science B.V.",
keywords = "Asn684Tyr, McArdle's disease, Myophosphorylase",
author = "Andreu, {Antonio L.} and Claudio Bruno and Lucia Tamburino and Josep Gamez and Sara Shanske and Carlos Cervera and Carmen Navarro and Salvatore Dimauro",
year = "1999",
month = "5",
day = "1",
doi = "10.1016/S0960-8966(98)00125-4",
language = "English",
volume = "9",
pages = "171--173",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "3",

}

TY - JOUR

T1 - A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

AU - Andreu, Antonio L.

AU - Bruno, Claudio

AU - Tamburino, Lucia

AU - Gamez, Josep

AU - Shanske, Sara

AU - Cervera, Carlos

AU - Navarro, Carmen

AU - Dimauro, Salvatore

PY - 1999/5/1

Y1 - 1999/5/1

N2 - We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis. Copyright (C) 1999 Elsevier Science B.V.

AB - We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis. Copyright (C) 1999 Elsevier Science B.V.

KW - Asn684Tyr

KW - McArdle's disease

KW - Myophosphorylase

UR - http://www.scopus.com/inward/record.url?scp=0032769632&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032769632&partnerID=8YFLogxK

U2 - 10.1016/S0960-8966(98)00125-4

DO - 10.1016/S0960-8966(98)00125-4

M3 - Article

C2 - 10382911

AN - SCOPUS:0032769632

VL - 9

SP - 171

EP - 173

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 3

ER -