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A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]
Hum GenomicsKhalilian S +6 more
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REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY
The Lancet, 1988M.J. Steiger +4 more
exaly +6 more sources
The Limb-Girdle Muscular Dystrophies
Continuum, 2022The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of limb-girdle pattern of weakness, caused by over 29 individual genes. This article describes the classification scheme, common subtypes, and the management of individuals with LGMD.Advances in genetic testing and next-generation sequencing ...
Nicholas E, Johnson, Jeffrey M, Statland
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Limb-girdle muscular dystrophy
Current Neurology and Neuroscience Reports, 2003The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the ...
Katherine D, Mathews, Steven A, Moore
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Limb–girdle muscular dystrophies
Current Opinion in Neurology, 2008The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs).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 ...
Guglieri M +3 more
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[Limb girdle muscular dystrophies].
Der Nervenarzt, 2005Limb girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of primary myopathies involving progressive weakness and wasting of the muscles in the hip and shoulder girdles, with distal spread to the bulbar or respiratory musculature in rare cases.
Helen V. Firth +2 more
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The Limb-Girdle Muscular Dystrophies
Neurologic Clinics, 2014A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-
Matthew P, Wicklund, John T, Kissel
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Limb-girdle muscular dystrophy 2A
2011Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the gene CAPN3 located in the chromosome region 15q15.1-q21.1. To date more than 300 mutations have been described. This gene encodes for a 94-kDa nonlysosomal calcium-dependent cysteine protease and its function in skeletal muscle is not fully understood. It seems that calpain-3
Eduard, Gallardo +2 more
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The limb-girdle muscular dystrophies
European Journal of Paediatric Neurology, 1999Abstract Literature on any disease is merely a snapshot of the level of understanding of a condition at that time. Since the introduction of the term in the mid 1950s someone reviewing the literature on the limb-girdle muscular dystrophies (LGMD) would recognize immediately that the field has often been confused and controversial over ...
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Limb-Girdle Muscular Dystrophies
2014Molecular and genetic breakthroughs continue to explode our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the more than 25 genes underlying these genetic muscle diseases lead to substantial heterogeneity in pathogenesis and clinical course.
Fiona L.M. Norwood, Kate Bushby
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