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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleMulti-minicore disease revisitedpt_BR
dc.contributor.authorNucci, Apt_BR
dc.contributor.authorQueiroz, LSpt_BR
dc.contributor.authorZambelli, HJLpt_BR
dc.contributor.authorMartins, Jpt_BR
unicamp.author.emailanucci@ni.hc.unicamp.brpt_BR
unicamp.authorUNICAMP, FCM, Dept Neurol, Fac Med Sci, BR-13083940 Campinas, SP, Brazil UNICAMP, FCM, Dept Pathol, Fac Med Sci, BR-13083940 Campinas, SP, Brazil UNICAMP, FCM, Dept Pediat, Fac Med Sci, BR-13083940 Campinas, SP, Brazilpt_BR
dc.subjectcongenital myopathypt_BR
dc.subjectmulti-minicore diseasept_BR
dc.subjectphenotypept_BR
dc.subjecthistochemistrypt_BR
dc.subjectelectron microscopypt_BR
dc.subject.wosCongenital Myopathypt_BR
dc.subject.wosOphthalmoplegiapt_BR
dc.subject.wosMusclept_BR
dc.subject.wosInheritancept_BR
dc.subject.wosMutationspt_BR
dc.subject.wosPhenotypept_BR
dc.subject.wosOnsetpt_BR
dc.subject.wosRyr1pt_BR
dc.subject.wosGenept_BR
dc.subject.wosAgept_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.pt
dc.relation.ispartofArquivos De Neuro-psiquiatriapt_BR
dc.relation.ispartofabbreviationArq. Neuro-Psiquiatr.pt_BR
dc.publisher.citySao Paulo Sppt_BR
dc.publisher.countryBrasilpt_BR
dc.publisherAssoc Arquivos De Neuro- Psiquiatriapt_BR
dc.date.issued2004pt_BR
dc.date.monthofcirculationDECpt_BR
dc.identifier.citationArquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 62, n. 4, n. 935, n. 939, 2004.pt_BR
dc.language.isoenpt_BR
dc.description.volume62pt_BR
dc.description.issuenumber4pt_BR
dc.description.firstpage935pt_BR
dc.description.lastpage939pt_BR
dc.rightsabertopt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn0004-282Xpt_BR
dc.identifier.wosidWOS:000225704800002pt_BR
dc.identifier.doi10.1590/S0004-282X2004000600002pt_BR
dc.date.available2014-11-14T06:45:20Z
dc.date.available2015-11-26T17:13:41Z-
dc.date.accessioned2014-11-14T06:45:20Z
dc.date.accessioned2015-11-26T17:13:41Z-
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dc.description.provenanceMade available in DSpace on 2015-11-26T17:13:41Z (GMT). No. of bitstreams: 2 WOS000225704800002.pdf: 173029 bytes, checksum: 11af2b3a100f9aa3c7ab6df0087a2f66 (MD5) WOS000225704800002.pdf.txt: 22689 bytes, checksum: 9c6c49aa0d1ff5ea63c4c04b3ae925d2 (MD5) Previous issue date: 2004en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/82163pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/82163
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/82163-
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