{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:54Z","timestamp":1791098814253,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5879,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first\u2010appearing symptom also results in a clean division by most\u2010likely inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320330108","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:59:47Z","timestamp":1118545187000},"page":"61-65","source":"Crossref","is-referenced-by-count":15,"title":["Optic atrophy, hearing loss, and peripheral neuropathy"],"prefix":"10.1002","volume":"33","author":[{"given":"Kristal","family":"Hagemoser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Weinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Bresnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Nellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Kirkpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313652"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00479.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480220071010"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280234"},{"key":"e_1_2_1_6_1","first-page":"219","article-title":"A propos des d\u00e9g\u00e9n\u00e9rescences neurosensorielles surdit\u00e9, atrophie optique et ataxie sensitive progressives chez deux soeurs","volume":"112","author":"J\u00e9quier M","year":"1973","journal-title":"Schweiz Arch Neurol Psychiatr"},{"key":"e_1_2_1_7_1","first-page":"264","article-title":"Three cases of Charcot\u2010Marie\u2010Tooth disease with neural deafness: The classification and sural nerve pathology","volume":"20","author":"Kim I","year":"1980","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00685265"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01076.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016488709134697"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.9.827"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb04400.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.33.169.217"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313209"},{"key":"e_1_2_1_15_1","first-page":"50","volume":"6","author":"Taylor J","year":"1913","journal-title":"Peroneal atrophy. 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