A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
作者： Pervin Dincer , France Leturcq , Isabelle Richard , Federica Piccolo , Dilek Yalnizoàlu
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摘要: Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogenous group of diseases involving at least six different loci. Five genes have already been identified: calpain-3 LGMD2A (15q15), four members the sarcoglycan (SG) complex, alpha-SG LGMD2D (17q21), beta-SG LGMD2E (4q12), gamma-SG LGMD2C (13q12), delta-SG LGMD2F (5q33-q34). The gene product LGMD2B (2p13-p16) still unknown one other unmapped. We investigated 20 Turkish families (18 consanguineous) diagnosed as having LGMD2. Most our patients had onset symptoms before age 10. phenotypes varied from severe to benign. analyzed SG complex by immunofluorescence and/or western blot. Genotyping was performed using markers defining known loci suspected were screened for mutations. Six 17 index cases showed deficiency Seven involved (alpha, 2; beta, 1; gamma, 4 cases), five mutations documented in alpha- genes. After linkage analysis, 10 characterized (calpain-3 deficiency), all eventually identified. One family classified 1 that has normal SGs linked chromosome 5q33-q34 locus (LGMD2F). In there no any LGMD2 It appears Turkey, broad spectrum defects may be possible correlate genotype phenotype All belonged gamma-SG-deficiency group. Nine calpain-3-deficient intermediate moderate clinical courses. patient expression, whereas case truly
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