Limb-girdle muscular dystrophies
Keywords:
Limb-girdle muscular dystrophy, LGMD, Hereditary myopathiesAbstract
Hereditary myopathies include a wide range of clinically, biochemically, and genetically distinct muscle diseases. Some of them have been known since the 19th century, and subsequently they have been linked to several hundred pathogenic variants, with new mutations and genes being identified each year. Among them, Limb-girdle- muscular dystrophy (LGMD) is a broad and heterogeneous group of inherited muscle disorders involving weakness of the proximal pelvic or shoulder muscles. The clinical phenotype varies and includes both- severe childhood-onset and milder late-onset forms, in detained individuals have slow progression of muscle weakness and a relatively preserved life course. They are a genetically heterogeneous group where molecular genetic diagnosis still remains a challenge.
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