Molecular characterization of McArdle's disease in two large Finnish families

Claudio Bruno; Mervi Löfberg; Lucia Tamburino; Heidi Jänkälä; George M. Hadjigeorgiou; Antonio L. Andreu; Sara Shanske; Hannu Somer; Salvatore Dimauro

doi:10.1016/S0022-510X(99)00091-X

Molecular characterization of McArdle's disease in two large Finnish families

Claudio Bruno, Mervi Löfberg, Lucia Tamburino, Heidi Jänkälä, George M. Hadjigeorgiou, Antonio L. Andreu, Sara Shanske, Hannu Somer, Salvatore Dimauro

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G→A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population. Copyright (C) 1999 Elsevier Science B.V.

Original language	English
Pages (from-to)	121-125
Number of pages	5
Journal	Journal of the Neurological Sciences
Volume	165
Issue number	2
DOIs	https://doi.org/10.1016/S0022-510X(99)00091-X
Publication status	Published - Jun 1 1999

Keywords

Glycogenosis type V
McArdle's disease
Metabolic myopathy
Myophosphorylase deficiency
Nonsense mutation
Splice-junction mutation

ASJC Scopus subject areas

Ageing
Clinical Neurology
Surgery
Developmental Neuroscience
Neurology
Neuroscience(all)

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Molecular characterization of McArdle's disease in two large Finnish families. / Bruno, Claudio; Löfberg, Mervi; Tamburino, Lucia; Jänkälä, Heidi; Hadjigeorgiou, George M.; Andreu, Antonio L.; Shanske, Sara; Somer, Hannu; Dimauro, Salvatore.

In: Journal of the Neurological Sciences, Vol. 165, No. 2, 01.06.1999, p. 121-125.

Research output: Contribution to journal › Article › peer-review

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abstract = "We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G→A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population. Copyright (C) 1999 Elsevier Science B.V.",

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AU - Bruno, Claudio

AU - Löfberg, Mervi

AU - Tamburino, Lucia

AU - Jänkälä, Heidi

AU - Hadjigeorgiou, George M.

AU - Andreu, Antonio L.

AU - Shanske, Sara

AU - Somer, Hannu

AU - Dimauro, Salvatore

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N2 - We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G→A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population. Copyright (C) 1999 Elsevier Science B.V.

AB - We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G→A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population. Copyright (C) 1999 Elsevier Science B.V.

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KW - Myophosphorylase deficiency

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KW - Splice-junction mutation

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Molecular characterization of McArdle's disease in two large Finnish families

Abstract

Keywords

ASJC Scopus subject areas

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