{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T20:56:55Z","timestamp":1698008215253},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7458,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.<\/jats:p>","DOI":"10.1002\/ajmg.1320200118","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:56:26Z","timestamp":1118519786000},"page":"145-158","source":"Crossref","is-referenced-by-count":10,"title":["Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism"],"prefix":"10.1002","volume":"20","author":[{"given":"Albert E.","family":"Chudley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bohdan","family":"Rozdilsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Stuart","family":"Houston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence E.","family":"Becker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan H.","family":"Knoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1978.00500330003002"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.11.1039"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140412"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80493-7"},{"key":"e_1_2_1_6_1","volume-title":"Muscle Biopsy: A Modern Approach","author":"Dubowitz V","year":"1973"},{"key":"e_1_2_1_7_1","first-page":"666","article-title":"Multicore disease: A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers","volume":"46","author":"Engel AG","year":"1971","journal-title":"Mayo Clin Proc"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)32067-3"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1542\/peds.43.5.858","article-title":"Familial pituitary dwarfism associated with an abnormal sella turcica","volume":"43","author":"Ferrier PA","year":"1969","journal-title":"J Pediatrics"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091484"},{"key":"e_1_2_1_11_1","volume-title":"Major Problems in Neurology","author":"Harper PS","year":"1979"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.39.6.602"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(71)90090-6"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.1977.tb00580.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90173-8"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80710-5"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.9.853"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.152.3729.1635"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150311"},{"key":"e_1_2_1_20_1","first-page":"107","article-title":"Congenital myopathy with target fibers","volume":"92","author":"Schotland DL","year":"1967","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/86.4.793"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/79.4.610"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.53.8.664"},{"key":"e_1_2_1_24_1","first-page":"102","volume-title":"Recognizable Patterns of Human Malformation","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_25_1","first-page":"152","volume-title":"Recognizable Patterns of Human Malformation","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091489"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690806"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313617"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200118","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T12:46:07Z","timestamp":1697892367000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,1]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,1]]}},"alternative-id":["10.1002\/ajmg.1320200118"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200118","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,1]]}}}