title: X-linked infantile spinal muscular atrophy.
abstract: Four male infants from three sibships in an extended family were noted to have hypotonia, areflexia, and congenital joint contractures. The findings of electromyography and muscle histology were consistent with infantile spinal muscular atrophy (SMA). Pedigree analysis suggests that this disorder represents an X-linked, recessive form of SMA. Findings in similar kindreds may explain the previously reported increased male-female ratio in infantile SMA.
authors.affiliation: Institute of Molecular Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: F
authors.initials: F
authors.lastname: Greenberg
authors.forename: K R
authors.initials: KR
authors.lastname: Fenolio
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: D
authors.initials: D
authors.lastname: Armstrong
authors.forename: J K
authors.initials: JK
authors.lastname: Willis
authors.forename: E
authors.initials: E
authors.lastname: Shapira
authors.forename: H W
authors.initials: HW
authors.lastname: Huntington
authors.forename: R L
authors.initials: RL
authors.lastname: Haun
mesh_terms: D001706:Biopsy; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome