title: Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
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.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA.
authors.forename: M
authors.initials: M
authors.lastname: el-Schahawi
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: A M
authors.initials: AM
authors.lastname: Sarrazin
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: M G
authors.initials: MG
authors.lastname: LeRoux
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013398:Sudden Infant Death / Q000235:genetics*