Results 171 to 180 of about 7,022 (221)
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 DisordHong X, Jiang F, Wang L.
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LGMD AUTOSOMAL RESSESSIVE AND DOMINANT
Neuromuscular Disorders, 2018J. Levy +4 more
semanticscholar +14 more sources
A Journey with LGMD: From Protein Abnormalities to Patient Impact
Protein Journal, 2021 The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive.
Ali Mohajer, Chih-Kao Hu
exaly +2 more sources
Current and Future Approaches to Classify VUSs in LGMD-Related Genes
Genes, 2022 Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs).
Conrad C Weihl
exaly +2 more sources
LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism
Frontiers in Neurology, 2022 Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous diseases presenting with a wide clinical spectrum. Autosomal dominant LGMDs represent about 10–15% of LGMDs and include disorders due to defects of DNAJB6, transportin ...
Roberta Costa +2 more
exaly +2 more sources
Journal of Neuromuscular Diseases, 2022
Aim: We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort. Background: LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAP gene that encodes for telethonin.
Zhiyong Chen +13 more
semanticscholar +1 more source
Aim: We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort. Background: LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAP gene that encodes for telethonin.
Zhiyong Chen +13 more
semanticscholar +1 more source