title: A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
abstract: This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the femoral muscle indicated massive neurogenic changes. Sural nerve biopsy disclosed a moderate reduction of myelinated fibers, predominantly reduced large fibers. She had a novel homozygous missense mutation 2685 C -->A, leading to a T879K substitution in the immunoglobulin mu-binding protein 2 gene. Both parents were heterozygous for this mutation.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Sapporo, Japan.
authors.forename: Nobutada
authors.initials: N
authors.lastname: Tachi
authors.forename: Sin
authors.initials: S
authors.lastname: Kikuchi
authors.forename: Naoki
authors.initials: N
authors.lastname: Kozuka
authors.forename: Azusa
authors.initials: A
authors.lastname: Nogami
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D017354:Point Mutation; D012131:Respiratory Insufficiency / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors