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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleMulti-minicore Disease Revisited.pt_BR
dc.contributor.authorNucci, Anamarlipt_BR
dc.contributor.authorQueiroz, Luciano Spt_BR
dc.contributor.authorZambelli, Helder J Lpt_BR
dc.contributor.authorMartins Filho, Josépt_BR
unicamp.authorAnamarli Nucci, Department of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil. anucci@ni.hc.unicamp.brpt_BR
unicamp.author.externalLuciano S Queiroz,pt
unicamp.author.externalHelder J L Zambelli,pt
unicamp.author.externalJosé Martins Filho,pt
dc.subjectAdolescentpt_BR
dc.subjectAdultpt_BR
dc.subjectBiopsypt_BR
dc.subjectElectromyographypt_BR
dc.subjectFemalept_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectMicroscopy, Electronpt_BR
dc.subjectMuscle, Skeletalpt_BR
dc.subjectMuscular Diseasespt_BR
dc.subjectMuscular Dystrophiespt_BR
dc.subjectMutationpt_BR
dc.description.abstractMulti-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.en
dc.relation.ispartofArquivos De Neuro-psiquiatriapt_BR
dc.relation.ispartofabbreviationArq Neuropsiquiatrpt_BR
dc.date.issued2004-Decpt_BR
dc.identifier.citationArquivos De Neuro-psiquiatria. v. 62, n. 4, p. 935-9, 2004-Dec.pt_BR
dc.language.isoengpt_BR
dc.description.volume62pt_BR
dc.description.firstpage935-9pt_BR
dc.rightsabertopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0004-282Xpt_BR
dc.identifier.doi/S0004-282X2004000600002pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/15608948pt_BR
dc.date.available2015-11-27T12:58:39Z-
dc.date.accessioned2015-11-27T12:58:39Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:58:39Z (GMT). No. of bitstreams: 1 pmed_15608948.pdf: 173029 bytes, checksum: 11af2b3a100f9aa3c7ab6df0087a2f66 (MD5) Previous issue date: 2004en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/196063-
dc.identifier.idPubmed15608948pt_BR
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