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A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease
Author(s) -
Rubio Juan C.,
Martín Miguel A.,
Campos Yolanda,
Auciello Raffaella,
Cabello Ana,
Arenas Joaquín
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f
Subject(s) - missense mutation , proband , genetics , mutation , arginine , gene , biology , amino acid
We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T‐to‐C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C‐terminal domain of the PYGM protein. The lack of enzyme activity in the proband's muscle is consistent with a crucial role of the aa 797 in the normal function of the PYGM protein. Our data further expand the genetic heterogeneity in patients with McArdle's disease. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 129–131, 2000