Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency

M. El-Schahawi, C. Bruno, S. Tsujino, A. M. Sarrazin, S. Shanske, M. G. LeRoux, S. DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

A previously healthy girl died suddenly and unexpectedly at three months of age in her sleep and an autopsy failed to reveal an adequate cause of death. As the father was known to have myophosphorylase (PPL) deficiency (McArdle's disease), we performed molecular genetic analysis of the PPL gene in autopsy muscle of the proposita. The girl was homozygous for the nonsense mutation at codon 49 most commonly associated with typical McArdle's disease. This report suggests that among children presenting as Sudden Infant Death Syndrome (SIDS) there may be cases associated with myophosphorylase deficiency.

Original languageEnglish
Pages (from-to)81-83
Number of pages3
JournalNeuromuscular Disorders
Volume7
Issue number2
DOIs
Publication statusPublished - Mar 1997

Keywords

  • McArdle's disease
  • Myophosphorylase deficiency
  • Sudden infant death syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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