title: SMA type 2 unrelated to chromosome 5q13.
abstract: We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance.
authors.affiliation: Institute for Child Development, Division of Pediatrics, Dana Children's Hospital, Tel-Aviv, Israel. nevoy@mail.netvision.net.il
authors.forename: Y
authors.initials: Y
authors.lastname: Nevo
authors.forename: U
authors.initials: U
authors.lastname: Kramer
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: R
authors.initials: R
authors.lastname: Shomrat
authors.forename: A
authors.initials: A
authors.lastname: Fatal
authors.forename: D
authors.initials: D
authors.lastname: Soffer
authors.forename: S
authors.initials: S
authors.lastname: Harel
authors.forename: Y
authors.initials: Y
authors.lastname: Shapira
mesh_terms: D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D017362:Cyclic AMP Response Element-Binding Protein; D017353:Gene Deletion; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007360:Intelligence; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000235:genetics; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D005819:Genetic Markers; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins