{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:47:40Z","timestamp":1758476860660},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4420,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1992,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a family in which both Werdnig\u2010Hoff\u2010mann disease (severe infantile\u2010onset spinal muscular atrophy) and chronic distal spinal muscular atrophy ocurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig\u2010Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.<\/jats:p>","DOI":"10.1002\/ana.410320318","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:15:56Z","timestamp":1104581756000},"page":"404-407","source":"Crossref","is-referenced-by-count":8,"title":["Werdnig\u2010Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance"],"prefix":"10.1002","volume":"32","author":[{"given":"Kevin B.","family":"Boylan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Cornblath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"A clinician's view of neuromuscular diseases","author":"Brooke MM","year":"1986"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1831"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/345823a0"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(69)90094-X"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/94.4.703"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(76)90032-0"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"639","DOI":"10.5694\/j.1326-5377.1976.tb98927.x","article-title":"A family with neurogenic atrophy of the distal muscles of the upper arms: clinical and electrophysiological studies","volume":"2","author":"Vignaendra V","year":"1976","journal-title":"Med J Aust"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.41.7.653"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(79)90114-X"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90177-X"},{"key":"e_1_2_1_12_2","first-page":"376","article-title":"The value of rectus abdominal muscle electromyography","volume":"10","author":"Cornblath DR","year":"1987","journal-title":"Muscle Nerve"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.2.236"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.52.3.314"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500540075011"},{"key":"e_1_2_1_16_2","first-page":"157","volume-title":"Amyotrophic lateral sclerosis and other motor neuron diseases","author":"Rowland LP","year":"1991"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90082-5"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410320318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410320318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T01:41:05Z","timestamp":1695865265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410320318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1002\/ana.410320318"],"URL":"https:\/\/doi.org\/10.1002\/ana.410320318","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}