{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T16:53:37Z","timestamp":1759683217621},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":9837,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1977,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked muscular dystrophy has been separated into two types that are generally considered to be distinct entities. We have investigated three families with X\u2010linked muscular dystrophy who demonstrate remarkable intrafamilial variability. In one family 2 brothers with a benign type had a maternal uncle who was affected with the Duchenne type. In another family, 4 members had the benign type but a fifth was much more severely affected than in the classic Duchenne dystrophy; therefore the presence of an \u201caggressive form\u201d is proposed. A third family also had both benign and severe types. A search of the literature revealed families in which the severe and benign types coexisted.<\/jats:p><jats:p>The genetic determinants of this heterogeneity are not yet known. Clinical similarities between bening and severe types of X\u2010linked muscular dystrophy and the presence of families with both types suggest that the two are intimately related.<\/jats:p>","DOI":"10.1002\/ana.410020512","type":"journal-article","created":{"date-parts":[[2004,12,31]],"date-time":"2004-12-31T08:37:52Z","timestamp":1104482272000},"page":"414-416","source":"Crossref","is-referenced-by-count":14,"title":["X\u2010Linked muscular dystrophy"],"prefix":"10.1002","volume":"2","author":[{"given":"Tetsuo","family":"Furukawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James B.","family":"Peter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"303","article-title":"Neue Ergebnisse der Genetik der Muskeldystrophien","volume":"7","author":"Becker PE","year":"1957","journal-title":"Acta Genet"},{"key":"e_1_2_1_3_2","first-page":"551","article-title":"Two new families of benign sex\u2010linked recessive muscular dystrophy","volume":"21","author":"Becker PE","year":"1962","journal-title":"Rev Can Biol"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00343141"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.11.8.734"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1111\/j.1742-1241.1963.tb01205.x","article-title":"Some clinical observations on childhood muscular dystrophy","volume":"17","author":"Dubowitz V","year":"1963","journal-title":"Br J Clin Pract"},{"key":"e_1_2_1_7_2","series-title":"Arch Gen Med (6th ser)","first-page":"5","volume-title":"Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myo\u2010scl\u00e9rosique","author":"Duchenne GB","year":"1868"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.29.4.338"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00033.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1969.tb00075.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/250651a0"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196511112732002"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.7.617"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/403631"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480110015001"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.317"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01687.x"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.13"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1971.tb00264.x"},{"key":"e_1_2_1_20_2","first-page":"263","volume-title":"Muscular Dystrophy in Man and Animals","author":"Walton JN","year":"1963"},{"key":"e_1_2_1_21_2","first-page":"497","article-title":"Carrier detection in X\u2010linked muscular dystrophy","volume":"17","author":"Walton JN","year":"1969","journal-title":"J Genet Hum"},{"key":"e_1_2_1_22_2","first-page":"561","volume-title":"Disorders of Voluntary Muscle","author":"Walton JN","year":"1974"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.321"},{"key":"e_1_2_1_24_2","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1001\/archinte.1967.00300040009002","article-title":"Slowly progressive X\u2010linked recessive muscular dystrophy (type IIIb)","volume":"120","author":"Zellweger H","year":"1967","journal-title":"Arch Intern Med"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410020512","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410020512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T09:41:36Z","timestamp":1698918096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410020512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,11]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1977,11]]}},"alternative-id":["10.1002\/ana.410020512"],"URL":"https:\/\/doi.org\/10.1002\/ana.410020512","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1977,11]]}}}