{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T08:25:20Z","timestamp":1759134320860},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1995,11,1]]},"DOI":"10.1136\/jnnp.59.5.552","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"552-554","source":"Crossref","is-referenced-by-count":11,"title":["Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion."],"prefix":"10.1136","volume":"59","author":[{"given":"D","family":"Malapert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Recan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Leturcq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Degos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R K","family":"Gherardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/brain\/117.1.1-a","article-title":"Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates","volume":"117","author":"Comi, G.P.; Prelle, A.; Bresolin, N.","year":"1994","unstructured":"Comi GP, Prelle A, Bresolin N, et al. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994;117:1-14.","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig, M.; Hoffman, E.P.; Bertelson, C.J.; Monaco, A.P.; Feener, C.; Kunkel, L.M.","year":"1987","unstructured":"Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.","journal-title":"Cell"},{"key":"ref_3","first-page":"1133","article-title":"Dystro-Mpyhionloopgayt","author":"Engel, A.G.; Yamamoto, M.; Fischbeck, K.H.","year":"1994","unstructured":"Engel AG, Yamamoto M, Fischbeck KH. Dystro-Mpyhionloopgayt,hiebass.icIna:nEdngcelilniAcaGl,VoFlraInI.zin2in-dArmeds.trNonegwC,Yoerdks:. McGraw-Hill, 1994:1133-87."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1212\/WNL.42.9.1783","article-title":"Detection cular dystrophy carriers of by DquuacnhteitnanteiveanmdulBteicpkleexr muspolymerase chain reaction analysis","volume":"42","author":"Ioannou, P.; Christopoulos, G.; Panayides, K.; Kleanthous, M.; Middleton, L.","year":"1992","unstructured":"Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L. Detection cular dystrophy carriers of by DquuacnhteitnanteiveanmdulBteicpkleexr muspolymerase chain reaction analysis. Neurology 1992;42: 1783-90.","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/BF00275183","article-title":"Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention","volume":"66","author":"Moser, H.","year":"1984","unstructured":"Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 1984;66: 17.","journal-title":"Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1399-0004.1974.tb01694.x","article-title":"The manifesting carrier in Duchenne muscular dystrophy","volume":"5","author":"Moser, H.; Emery, A.E.H.","year":"1974","unstructured":"Moser H, Emery AEH. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974;5: 271-84.","journal-title":"Clin Genet"},{"key":"ref_7","first-page":"563","article-title":"Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter","volume":"93","author":"Tihy, F.; Vogt, N.; Recan, D.","year":"1994","unstructured":"Tihy F, Vogt N, Recan D, et al. Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994;93:563-7.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jnnp.26.4.322","article-title":"Myopathic changes in a muscular dystrophy carrier..7 Neurol","volume":"26","author":"Dubowitz, V.","year":"1963","unstructured":"Dubowitz V. Myopathic changes in a muscular dystrophy carrier..7 Neurol Neurosurg Psychiatry 1963;26:322.","journal-title":"Neurosurg Psychiatry"},{"issue":"126","key":"ref_9","article-title":"Clinical manifestations in two carriers of Duchenne muscular dystrophy Lancet","volume":"1","author":"Emery, A.E.H.","year":"1963","unstructured":"Emery AEH. Clinical manifestations in two carriers of Duchenne muscular dystrophy Lancet 1963;i:1 126."},{"key":"ref_10","first-page":"\"24.\" # \"967","article-title":"X-chromosome mosaicism in females","volume":"50","author":"Pearson, C.M.; Fowler, W.M.; Wright, S.W.","year":"1963","unstructured":"Pearson CM, Fowler WM, Wright SW. X-chromosome mosaicism in females with muscular dystrophy. Proc Natl HoAfcfamdaSncni (USA) 1963;50:24. EP, Arahata K, Minetti C, Bonilla E, Rowland LP. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992;42:967-75.","journal-title":"with muscular dystrophy. Proc Natl HoAfcfamdaSncni (USA); Neurology; Dystrophinopathy in isolated cases of myopathy in females"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/0092-8674(94)90527-4","article-title":"Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy","volume":"78","author":"Roberds, S.L.; Leturcq, F.; Allamand, V.","year":"1994","unstructured":"Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.","journal-title":"Cell"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.59.5.552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:51:23Z","timestamp":1601088683000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.59.5.552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,1]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1995,11,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.59.5.552","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1995,11,1]]}}}