Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
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چکیده
منابع مشابه
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
BACKGROUND Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. ME...
متن کاملAutosomal recessive limb-girdle muscular dystrophies in the Czech Republic
BACKGROUND Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes. METHODS ...
متن کاملThe 10 autosomal recessive limb-girdle muscular dystrophies.
Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. The 10 genes responsible for the autosomal recessive forms, which account for more than 90% of the cases, had their product identified. This review will focus on the most recent data on autosomal recessive-limb-girdle muscular dystrophy and on our own experience of more t...
متن کاملLimb-girdle muscular dystrophies.
PURPOSE OF REVIEW The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs). RECENT FINDINGS Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the ...
متن کاملA cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of o...
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ژورنال
عنوان ژورنال: BMC Musculoskeletal Disorders
سال: 2016
ISSN: 1471-2474
DOI: 10.1186/s12891-016-1058-z