{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:58Z","timestamp":1791098818865,"version":"4.1.0"},"reference-count":2,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:p>We describe a family with distal spinal muscular atrophy and vocal cord paralysis, similar to the condition reported by Young and Harper in 1980. Both pedigrees are consistent with autosomal dominant inheritance.<\/jats:p>","DOI":"10.1136\/jmg.29.3.197","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"197-199","source":"Crossref","is-referenced-by-count":25,"title":["Distal spinal muscular atrophy with vocal cord paralysis."],"prefix":"10.1136","volume":"29","author":[{"given":"C","family":"Pridmore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Brett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,3,1]]},"reference":[{"key":"ref_1","article-title":"The paternal grandfather (II.1), born in 1924, was said to be more severely affected than III.2 with a hoarse voice and marked wasting of his hands. He had wasted feet, an abnormal gait with foot drop and a tendency to trip, and recent difficulty in climbing and","unstructured":"The paternal grandfather (II.1), born in 1924, was said to be more severely affected than III.2 with a hoarse voice and marked wasting of his hands. He had wasted feet, an abnormal gait with foot drop and a tendency to trip, and recent difficulty in climbing and"},{"key":"ref_2","article-title":"Table 3 compares our clinical findings and electrophysiological studies with those of other groups.'-3 Our family is comparable with the Welsh family described by Young and Harper'","year":"1980","unstructured":"Table 3 compares our clinical findings and electrophysiological studies with those of other groups.'-3 Our family is comparable with the Welsh family described by Young and Harper' in 1980. They share many clinical and electrophysiological features. Upper limb involvement preceded lower limb changes in most patients. Only one subject in the family of Young and Harper had a normal voice and indirect laryngoscopy showed unilateral or bilateral vocal cord paralysis in the hoarse subjects examined.","journal-title":"in; They share many clinical and electrophysiological features. Upper limb involvement preceded lower limb changes in most patients. Only one subject in the family of Young and Harper had a normal voice and indirect laryngoscopy showed unilateral or bilateral vocal cord paralysis in the hoarse subjects examined"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.3.197","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:56:16Z","timestamp":1760738176000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.3.197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1992,3,1]]},"published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1136\/jmg.29.3.197"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.3.197","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,3]]}}}