Results 161 to 170 of about 14,650 (210)

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review. [PDF]

BMC Musculoskelet Disord
Hong X, Jiang F, Wang L.
europepmc   +1 more source

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. [PDF]

Orphanet J Rare Dis
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report. [PDF]

BMC Musculoskelet Disord
Hesami H, Ghasemi S, Houshmand G, Nilipour Y, Hesami M, Biglari A, Nafissi S, Maleki M, Kalayinia S.   +8 more
europepmc   +1 more source

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REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY

The Lancet, 1988
M.J. Steiger, P. Brown, PerSchmidt Sørensen, Troels Sørensen, KurtVirring Sørensen   +4 more
exaly   +6 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 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

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 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
  +6 more sources