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The defective gene, the immunoglobulin \u03bc-binding protein 2 (IGHMBP2 gene), of this autosomal recessive disorder is located on chromosome 11q13 and encodes immunoglobulin \u03bc-binding protein 2. The natural history and phenotypic spectrum of the disease are still not clear. The authors present the first genetically proven case of spinal muscular atrophy with respiratory distress type 1 to be reported from Saudi Arabia. The parents are first cousins and the causative gene sequencing revealed mutation in exon 7 reported for the first time in a homozygous form. The clinical scenario of the case is discussed. The findings in the muscle magnetic resonance imaging (MRI) are presented.<\/jats:p>","DOI":"10.1177\/0883073809344121","type":"journal-article","created":{"date-parts":[[2010,3,2]],"date-time":"2010-03-02T20:13:05Z","timestamp":1267560785000},"page":"764-769","source":"Crossref","is-referenced-by-count":10,"title":["Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report"],"prefix":"10.1177","volume":"25","author":[{"given":"Abdulaziz","family":"AlSaman","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoda","family":"Tomoum","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia, Department of Pediatrics, Ain Shams University, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,3,1]]},"reference":[{"issue":"1","key":"atypb1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1542\/peds.53.1.33","volume":"53","author":"Mellins RB","year":"1974","journal-title":"Pediatrics"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1086\/302636"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1038\/ng703"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807310989"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.15.7831"},{"issue":"37","key":"atypb6","first-page":"21503","volume":"270","author":"Shieh SY","year":"1995","journal-title":"Cloning of a binding factor with putative helicase motifs. 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