Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196063
Type: Artigo de periódico
Title: Multi-minicore Disease Revisited.
Author: Nucci, Anamarli
Queiroz, Luciano S
Zambelli, Helder J L
Martins Filho, José
Abstract: Multi-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.
Subject: Adolescent
Adult
Biopsy
Electromyography
Female
Humans
Male
Microscopy, Electron
Muscle, Skeletal
Muscular Diseases
Muscular Dystrophies
Mutation
Rights: aberto
Identifier DOI: /S0004-282X2004000600002
Address: http://www.ncbi.nlm.nih.gov/pubmed/15608948
Date Issue: 2004
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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