Results 201 to 210 of about 16,504 (255)

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

open access: yesOrphanet J Rare Dis
Banerjee S   +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]

open access: yesBMC Musculoskelet Disord
Hesami H   +8 more
europepmc   +1 more source

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels. [PDF]

open access: yesMol Syndromol
Sarıkaya Uzan G   +6 more
europepmc   +1 more source

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. [PDF]

open access: yesJ Neuromuscul Dis
Jensen SM   +5 more
europepmc   +1 more source

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

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