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Dystrophinopathies and Limb-Girdle Muscular Dystrophies

Neuropediatrics, 2017
AbstractMuscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options.
Francesco Muntoni, Joana Domingos
exaly   +4 more sources

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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-
John T Kissel, Matthew P Wicklund
exaly   +3 more sources

The Limb-Girdle Muscular Dystrophies

Continuum, 2022
The 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
openaire   +2 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

European Journal of Neurology, 2007
The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic girdles; their classification has been completely revised in recent years because ...
Hanns Lochmüller
exaly   +2 more sources

Limb-Girdle Muscular Dystrophies

Continuum
This article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dystrophies (LGMDs).There are currently five dominantly inherited LGMDs (LGMD-D1 to D5) and 29 recessively inherited LGMDs (LGMD-R1 to R29 ...
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +3 more sources