Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.

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dc.contributor.authorLiewluck, Teerinen_US
dc.contributor.authorKintarak, Jutatipen_US
dc.contributor.authorSangruchi, Tumtipen_US
dc.contributor.authorSelcen, Duyguen_US
dc.contributor.authorKulkantrakorn, Kongkiaten_US
dc.date.accessioned2009-05-27T21:39:39Z
dc.date.available2009-05-27T21:39:39Z
dc.date.issued2009-02-04en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractMyofibrillar myopathy (MFM) encompasses a genetically and clinically heterogeneous group of inherited or sporadic skeletal muscle disorders characterized pathologically by the presence of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins especially Z-disk related proteins. Patients with MFM initially present with muscle weakness and commonly developed cardiomypathy in the advanced stage. To date, mutations of genes encoding Z-disk proteins or proteins maintaining myofibrillar integrity including ZASP, MYOT, DES, FLNC and CRYAB underlie MFM. The authors herein report a 29-year-old Thai woman with a clinical diagnosis of autosomal dominant limb-girdle muscular dystrophy (LGMD1) who has one affected grandmother. The patient was subsequently found to have MFM based on her myopathological findings. Analyses of all MFM-genes known to date revealed no mutations. The current case emphasizes the importance of muscle biopsy in LGMD1 patients and a wide range of phenotypic variations among patients with MFM. The causative genes underlying the majority of MFM remain uncovered. Close monitoring of the cardiac function is crucial to prevent mortality among these patients.en_US
dc.description.affiliationDepartment of Pathology and Neurogenetics Network, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. sitll@mahidol.ac.then_US
dc.identifier.citationLiewluck T, Kintarak J, Sangruchi T, Selcen D, Kulkantrakorn K. Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. Journal of the Medical Association of Thailand. 2009 Feb; 92(2): 290-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/45179
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshAdulten_US
dc.subject.meshBiopsyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMuscle, Skeletal --pathologyen_US
dc.subject.meshMuscular Dystrophies, Limb-Girdle --geneticsen_US
dc.subject.meshMyofibrils --pathologyen_US
dc.subject.meshPhenotypeen_US
dc.titleMyofibrillar myopathy with limb-girdle phenotype in a Thai patient.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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