G.P.43 LGMD2I is not rare in Asia

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• 作者：W.C. Liang ; M. Ogawa ; Y.K. Hayashi ; C.H. Wang ; W.T. Huang ; I. Nishino ; Y.J. Jong
• 刊名：Neuromuscular Disorders
• 出版年：2012
• 出版时间：October, 2012
• 年：2012
• 卷：22
• 期：9-10
• 页码：832
• 全文大小：48 K

文摘

Alpha-dystroglycanopathy is caused by defective glycosylation of ¦Á-dystroglycan (DG). Broad clinical spectrum is known from lethal congenital muscular dystrophy (CMD) to later-onset limb-girdle muscular dystrophy (LGMD). So far, seven causative genes were recognized, and LGMD2I caused by FKRP mutations is most commonly seen in Europe but very rare in Asia. We screened 50 unclassified LGMD and CMD patients by immunohistochemistry (IHC) for ¦Á-DG and found seven patients with reduced ¦Á-DG staining. Sequence analysis revealed five LGMD2I patients from four families harboring FKRP mutations including a common c.948delC mutation. The mean age of these patients is 24.4 years and the mean disease duration is 17.4 years. The disease onset is variable, ranging from early childhood to late teens (2-17 years; mean: 7.2). Immunoblotting and laminin overlay assay confirmed the impaired glycosylation of ¦Á-DG in the LGMD2I patients¡¯ muscles and the pattern seemed correlated to the clinical phenotype. In our series, all patients have developed cardiomyopathy except for the youngest 10-year-old boy while only one required ventilator assistance. Muscle images showed more severe involvement of gluteus maximus and posterior compartment at both thigh and calf levels. This report discloses that LGMD2I is not rare in Taiwan, compared with other Asian countries. Muscle image is helpful for the differential diagnosis because of its constant pattern of muscle involvement. The common mutation, c.948delC may be associated with higher frequency of cardiomyopathy but further functional assays are necessary to explore the genotype-phenotype correlation.