The Congenital and Limb-Girdle Muscular Dystrophies
نویسندگان
چکیده
منابع مشابه
Limb-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 کاملmolecular diagnosis of limb girdle muscular dystrophies
limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...
متن کاملGenetic Testing for Limb-Girdle Muscular Dystrophies
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متن کاملLimb girdle muscular dystrophies in India.
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics. Based on this, many subgroups have emerged. Protein products and genes are getting defined and newer mechanisms of disease are being recognized. Limb girdle muscular dystrophies are common in India. The clinical material is plentiful, and...
متن کاملDiagnosis and management of the limb girdle muscular dystrophies.
Making the diagnosis of a particular type of limb girdle muscular dystrophy (LGMD) can appear challenging. In fact, various clues from the way the patient presents, and the results of simple investigations such as creatine kinase levels, can be extremely helpful in sorting out the various disease entities within this group of patients. The results of more specialised testing of the muscle biops...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2004
ISSN: 0003-9942
DOI: 10.1001/archneur.61.2.189