{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:21:20Z","timestamp":1760833280612,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait.<\/jats:p>","DOI":"10.1136\/jmg.14.6.426","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"426-429","source":"Crossref","is-referenced-by-count":34,"title":["Congenital, hypotonic-sclerotic muscular dystrophy."],"prefix":"10.1136","volume":"14","author":[{"given":"T","family":"Furukawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Toyokura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"65","article-title":"Superior intelligence in recessively inherited torsion dystonia","volume":"1","year":"1970","unstructured":"Eldridge, R., Harlan, A., Cooper, 1. S., and Riklan, M. (1970). Superior intelligence in recessively inherited torsion dystonia. Lancet, 1, 65-67.","journal-title":"Lancet"},{"key":"ref_2","first-page":"75","article-title":"Beitrag zur kongenitalen atonisch-sklerotischen Muskeldystrophie (Typ Ullrich). Zeitschriftfur Kinderheilkunde","author":"Gott, H.; Josten, E.-A.","year":"1954","unstructured":"Gott, H., and Josten, E.-A. (1954). Beitrag zur kongenitalen atonisch-sklerotischen Muskeldystrophie (Typ Ullrich). Zeitschriftfur Kinderheilkunde, 75,105-118."},{"key":"ref_3","first-page":"131","volume":"106","author":"Rotthauwe, H.W.; Kowalewski, S.","year":"1969","unstructured":"Rotthauwe, H. W., and Kowalewski, S. (1969). Kongenitale Muskeldystrophie. Zeitschrift fur Kinderheilkunde, 106, 131-162."},{"key":"ref_4","first-page":"387","article-title":"Die atonisch-sklerotische Muskeldystrophie (Ullrich) im Rahmen mesodermaler","volume":"88","author":"Schneider, H.","year":"1957","unstructured":"Schneider, H. (1957). Die atonisch-sklerotische Muskeldystrophie (Ullrich) im Rahmen mesodermaler Dysplasien. Zeitschrift fur Orthopadie und ihre Grenzgebeite, 88, 387-404."},{"key":"ref_5","first-page":"279","article-title":"Oyber atonisch-sklerotische Muskeldystrophie","volume":"60","author":"Stoeber, E.","year":"1939","unstructured":"Stoeber, E. (1939). Oyber atonisch-sklerotische Muskeldystrophie (Typ Ullrich). Zeitschrift fur Kinderheilkunde, 60, 279-284."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0033-3182(66)72068-4","article-title":"Retinoblastoma and intelligence","volume":"7","author":"Thurrell, R.J.; Josephson, T.S.","year":"1966","unstructured":"Thurrell, R. J., and Josephson, T. S. (1966). Retinoblastoma and intelligence. Psychosomatics, 7, 368-370.","journal-title":"Psychosomatics"},{"year":"1930","author":"Ullrich, 0","key":"ref_7","unstructured":"Ullrich, 0. (1930a). Kongenitale, atonisch-sklerotische"},{"year":"1930","author":"Ullrich, 0","key":"ref_8","unstructured":"Ullrich, 0. (1930b). Kongenitale, atonisch-sklerotische"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1136\/adc.43.228.204","article-title":"Superior intelligence of children blinded from retinoblastoma","volume":"43","author":"Williams, M.","year":"1968","unstructured":"Williams, M. (1968). Superior intelligence of children blinded from retinoblastoma. Archives of Disease in Childhood, 43, 204-210.","journal-title":"Archives of Disease in Childhood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:07:54Z","timestamp":1760774874000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.426"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.426","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}