A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

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dc.citation.epage778en_US
dc.citation.issueNumber10en_US
dc.citation.spage771en_US
dc.citation.volumeNumber13en_US
dc.contributor.authorDincer, P.en_US
dc.contributor.authorBalcı, B.en_US
dc.contributor.authorYuva, Y.en_US
dc.contributor.authorTalim, B.en_US
dc.contributor.authorBrockington, M.en_US
dc.contributor.authorDincel, D.en_US
dc.contributor.authorTorelli, S.en_US
dc.contributor.authorSue, B. B.en_US
dc.contributor.authorKale, G.en_US
dc.contributor.authorHaliloglu, G.en_US
dc.contributor.authorGerceker, F. O.en_US
dc.contributor.authorAtalay, R. C.en_US
dc.contributor.authorYakıcıer, C.en_US
dc.contributor.authorLongman, C.en_US
dc.contributor.authorMuntoni, F.en_US
dc.contributor.authorTopaloglu, H.en_US
dc.date.accessioned2015-07-28T11:57:22Z
dc.date.available2015-07-28T11:57:22Z
dc.date.issued2003-12en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractThe limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of α-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of α-dystroglycan. © 2003 Published by Elsevier B.V.en_US
dc.description.provenanceMade available in DSpace on 2015-07-28T11:57:22Z (GMT). No. of bitstreams: 1 10.1016-S0960-8966(03)00161-5.pdf: 371327 bytes, checksum: 95bdeddf6bee44d061c3ca1099839d58 (MD5)en
dc.identifier.doi10.1016/S0960-8966(03)00161-5en_US
dc.identifier.issn0960-8966
dc.identifier.urihttp://hdl.handle.net/11693/11315
dc.language.isoEnglishen_US
dc.publisherElsevieren_US
dc.relation.isversionofhttp://dx.doi.org/10.1016/S0960-8966(03)00161-5en_US
dc.source.titleNeuromuscular Disordersen_US
dc.subjectα-dystroglycanen_US
dc.subjectAutosomal recessive limb girdle muscular dystrophyen_US
dc.subjectLgmd2en_US
dc.subjectMental Retardationen_US
dc.subjectMicrocephalyen_US
dc.titleA novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycanen_US
dc.typeArticleen_US

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