{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T20:11:19Z","timestamp":1773951079572,"version":"3.50.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T00:00:00Z","timestamp":1146441600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T00:00:00Z","timestamp":1146441600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2006,5]]},"DOI":"10.1016\/j.nmd.2006.02.007","type":"journal-article","created":{"date-parts":[[2006,4,18]],"date-time":"2006-04-18T15:19:35Z","timestamp":1145373575000},"page":"316-320","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes"],"prefix":"10.1016","volume":"16","author":[{"given":"K.","family":"Fendri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Hentati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Amouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2006.02.007_bib1","unstructured":"Online Mendelian inheritance in man (OMIM). The human genome data base project, John Hopkins University, Baltimore, MD. World Wide Web. URL: http:\/\/gdbwww.gdb.org\/omim\/docs\/omimtop.html"},{"key":"10.1016\/j.nmd.2006.02.007_bib2","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1126\/science.270.5237.819","article-title":"Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy","volume":"270","author":"Noguchi","year":"1995","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.nmd.2006.02.007_bib3","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","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2006.02.007_bib4","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ng1195-266","article-title":"Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex","volume":"11","author":"B\u00f6nnemann","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2006.02.007_bib5","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng1195-257","article-title":"[beta]-Sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12","volume":"11","author":"Lim","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2006.02.007_bib6","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng1096-195","article-title":"Autosomal recessive limb-girdle muscular dystrophy LGMD2F is caused by a mutation in the delta-sarcoglycan gene","volume":"14","author":"Nigro","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2006.02.007_bib8","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/mus.880060702","article-title":"Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia","volume":"6","author":"Ben Hamida","year":"1983","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2006.02.007_bib9","first-page":"732","article-title":"Evidence for further linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD 2C)","volume":"57","author":"Ben Othmane","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.nmd.2006.02.007_bib10","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0960-8966(03)00136-6","article-title":"Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation","volume":"13","author":"Kefi","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2006.02.007_bib11","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0960-8966(98)00014-5","article-title":"LGMD2E in Tunisia is caused by a homozygous missense mutation in \u03b2-sarcoglycan exon 3","volume":"8","author":"B\u00f6nneman","year":"1998","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2006.02.007_bib12","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1212\/WNL.45.4.768","article-title":"Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12\u201314","volume":"45","author":"Bejaoui","year":"1995","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2006.02.007_bib13","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0960-8966(00)00099-7","article-title":"A new locus for AR-LGMD in a large consanguineous Tunisian family maps to chromosome 19q13.3","volume":"10","author":"Driss","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2006.02.007_bib14","unstructured":"The Leiden muscular dystrophy pages (www.dmd.nl). Dr Johan T. den Dunnen, The Netherlands: Center for Human and Clinical Genetics, Leiden University Medical Center."},{"key":"10.1016\/j.nmd.2006.02.007_bib15","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/S0960-8966(01)00276-0","article-title":"Primary \u03b3-sarcoglycanopathy (LGMD2C): broadening of the mutational spectrum guided by the immunohistochemical profile","volume":"12","author":"B\u00f6nnemann","year":"2002","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2006.02.007_bib16","first-page":"223","article-title":"Molecular diagnosis and counselling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy","volume":"12","author":"Dos Santos","year":"2001","journal-title":"Genet Couns"},{"key":"10.1016\/j.nmd.2006.02.007_bib17","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0","article-title":"Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G","volume":"82","author":"Passos-Bueno","year":"1999","journal-title":"Am J Med Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896606000587?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896606000587?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:54:44Z","timestamp":1760774084000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896606000587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["S0960896606000587"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2006.02.007","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2006,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2006.02.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}