✦ LIBER ✦

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

✍ Scribed by Josep Gamez; Roberto Fernandez; Claudio Bruno; Antonio L. Andreu; Carlos Cervera; Carmen Navarro; Simon Schwartz; Salvatore Dimauro

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 84 KB
Volume: 22
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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