Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

C. Paradas, I. Fernandez-Cadenas, E. Gallardo, D. Lligé, J. Arenas, I. Illa, A. L. Andreu

Research output: Contribution to journalArticleResearchpeer-review

11 Citations (Scopus)

Abstract

We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four individuals who had the same genotype for PYGM, showed a wide variability in the presentation of the clinical phenotype, including one patient with a restrictive respiratory pattern, which is unusual in McArdle's disease. Moreover, these patients were studied for the insertion/deletion (I/D) trait in the angiotensin converting enzyme (ACE) which has been suggested to be a strong modulator of severity in McArdle's disease. Our results indicate no association of the I/D ACE trait in this family, suggesting that other factors would be more relevant in determining the severity of the clinical presentation. © 2005 Elsevier Ireland Ltd. All rights reserved.
Original languageEnglish
Pages (from-to)28-31
JournalNeuroscience Letters
Volume391
DOIs
Publication statusPublished - 31 Dec 2005

Keywords

  • ACE genotype
  • McArdle's disease
  • Metabolic myopathy
  • Muscle glycogen phosphorylase deficiency
  • Mutation
  • Phenotype modulators

Fingerprint Dive into the research topics of 'Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene'. Together they form a unique fingerprint.

Cite this