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- W2044961889 abstract "We studied the disease spectrum and molecular basis of distal myopathies in Thailand. Clinicopathological data of 402 muscle biopsies performed at Siriraj Hospital from 1989 to 2005 have been reviewed. Patients with preferential distal muscle weakness in the initial stage of diseases and muscle biopsies revealed nonspecific myopathic changes with or without rimmed vacuoles were further investigated by immunohistochemical studies and molecular analyses. Nine Thai individuals with clinicopathological diagnoses of distal myopathies are reported including five distal myopathies with rimmed vacuoles (DMRV), three Miyoshi myopathy (MM), 1 distal anterior dysferlinopathy and one myofibrillar myopathy patients. GNE gene mutations found in 80% of Thai DMRV patients includes three novel mutations, G89R, P511T and I656N. One mutation, V696M, is relatively more prevalent in these patients accounting for 50% of the GNE mutations in this study. DYSF gene mutations are identified in only one patient with MM including novel homozygous mutation of Q176X but are not found in distal anterior dysferlinopathy patient. Distal myopathies are uncommon and found only in 2.25% of all muscle biopsies analyzed at Siriraj Hospital. DMRV is by far the most common distal myopathies in Thai population accounting for 50% of all cases and 80% of Thai DMRV patients carry GNE gene mutations. Dysferlinopathy is the second common distal myopathy in Thailand but only 25% of patients carry DYSF mutation. Many novel mutations of GNE and DYSF genes are identified." @default.
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- W2044961889 date "2006-10-01" @default.
- W2044961889 modified "2023-10-17" @default.
- W2044961889 title "P.P.3.07 Distal myopathies in Thailand" @default.
- W2044961889 doi "https://doi.org/10.1016/j.nmd.2006.05.108" @default.
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