Results 211 to 220 of about 16,504 (255)

Limb-girdle muscular dystrophy

Current Neurology and Neuroscience Reports, 2003
The 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, 2008
The 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, Straub V, Bushby K, Lochmüller H   +3 more
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[Limb girdle muscular dystrophies].

Der Nervenarzt, 2005
Limb 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, Jane A. Hurst, Judith G. Hall   +2 more
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The Limb-Girdle Muscular Dystrophies

Neurologic Clinics, 2014
A 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

2011
Limb-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, Amets, Saenz, Isabel, Illa   +2 more
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The limb-girdle muscular dystrophies

European Journal of Paediatric Neurology, 1999
Abstract 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

2014
Molecular 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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The Limb-Girdle Muscular Dystrophies

Continuum, 2019
As a group, the limb-girdle muscular dystrophies (LGMDs) are the fourth most prevalent genetic muscle disease, yet they are still not well known or understood. This article defines and describes LGMDs, delineates a diagnostic strategy, and discusses treatment of the LGMDs.In 2018, the definition of the LGMDs was further refined, and a new nomenclature ...
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Limb-Girdle Muscular Dystrophy Type 2I

2014
Limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi (MM) are caused by mutations in the DYSF gene encoding the protein dysferlin (Table 10.1). Although the clinical features of LGMD2B and MM are different, both phenotypes can be detected among patients belonging to the same family.
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Limb–Girdle Muscular Dystrophies

2017
Limb–girdle muscular dystrophies (LGMDs) are a large group of autosomal muscular dystrophies, transmitted as dominant (LGMD 1) and recessive (LGMD 2). Presently at least 8 dominant and 21 recessive forms have been described. All share the broad denominator of limb–girdle weakness; some specific clinical features are known to correlate with the ...
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
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