{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T03:48:44Z","timestamp":1783741724293,"version":"3.55.0"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1999,6,1]],"date-time":"1999-06-01T00:00:00Z","timestamp":928195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1999,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene conversion. The severity of muscle weakness correlates with the amount of full\u2010length SMN protein produced. Molecular genetic studies support a model in which patients are compound heterozygotes of deleted and converted alleles that predicts a progressively decreasing amount of protein product with severity of muscle weakness. The function of SMN is beginning to be understood and it appears to be involved in ribonucleoprotein biogenesis and thus indirectly in post\u2010transcriptional processing of mRNA. There are theoretical grounds for motor neurons having a cell\u2010specific vulnerability to disturbances of mRNA processing and transport and these are briefly reviewed.<\/jats:p>","DOI":"10.1023\/a:1005516625866","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:31:09Z","timestamp":1040509869000},"page":"545-554","source":"Crossref","is-referenced-by-count":31,"title":["Spinal muscular atrophy"],"prefix":"10.1002","volume":"22","author":[{"given":"K.","family":"Talbot","sequence":"first","affiliation":[{"name":"Department of Neurology Radcliffe Infirmary  Woodstock Road Oxford OX2 6HE UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1999,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1971"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/344540a0"},{"key":"e_1_2_1_4_1","unstructured":"BurglenL PatelS DubowitzV MelkiJ MuntoniF(1996)A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. 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