title: Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy.
abstract: In Malaysia, Spinal Muscular Atrophy (SMA) is diagnosed based on clinical observation with or without muscle biopsy. Molecular analyses of the SMA-related genes have not been available so far. In this preliminary study, we searched for homozygous deletion of Survival Motor Neuron (SMN1) and Neuronal Apoptosis Inhibitory Protein (NAIP) genes in Malay patients with SMA and found homozygous deletion of SMN1 exon 7 and 8 in all the patients while homozygous deletion of NAIP exon 5 was detected in only our type 1 patients but not in the type 3 patient. To the best of our knowledge, these are the first SMA cases diagnosed at the molecular level in Malaysia.
authors.affiliation: Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, Malaysia.
authors.forename: B A
authors.initials: BA
authors.lastname: Zilfalil
authors.forename: A M H
authors.initials: AM
authors.lastname: Zabidi-Hussin
authors.forename: M S
authors.initials: MS
authors.lastname: Watihayati
authors.forename: M Y
authors.initials: MY
authors.lastname: Rozainah
authors.forename: L
authors.initials: L
authors.lastname: Naing
authors.forename: R
authors.initials: R
authors.lastname: Sutomo
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: M Y
authors.initials: MY
authors.lastname: Narazah
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D006801:Humans; D008296:Malaysia; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein