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A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact
Author(s) -
Gamez Josep,
Fernandez Roberto,
Bruno Claudio,
Andreu Antonio L.,
Cervera Carlos,
Navarro Carmen,
Schwartz Simon,
Dimauro Salvatore
Publication year - 1999
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(199908)22:8<1136::aid-mus21>3.0.co;2-2
Subject(s) - missense mutation , exon , mutation , genetics , gene , transition (genetics) , biology , exercise intolerance , leucine , amino acid , medicine , heart failure
We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T‐to‐C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 1136–1138, 1999