Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.13234
Abstract: Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track disease progression in muscle disorders, it is still unclear how these findings relate to histopathological changes in… read more here.
Keywords: limb girdle; fat replacement; muscle; muscular dystrophy ... See more keywords
Evaluation of cardiomyopathy with two‐dimensional speckle tracking echocardiography in limb‐girdle muscular dystrophy type 2A and 2B
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.23323
Abstract: Cardiac involvement in limb‐girdle muscular dystrophy (LGMD)2A and LGMD2B, the most common subgroups of LGMD, is controversial. Our study aims to determine whether myocardial dysfunction develops in LGMD2A and LGMD2B patients. read more here.
Keywords: limb girdle; muscular dystrophy; girdle muscular; evaluation cardiomyopathy ... See more keywords
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10233
Abstract: Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to… read more here.
Keywords: dystrophy; limb girdle; clinical exome; girdle muscular ... See more keywords
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2101
Abstract: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes… read more here.
Keywords: dystrophy; limb girdle; variants linked; girdle muscular ... See more keywords
Limb–Girdle Muscular Dystrophies
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1007/978-981-10-5361-0_12
Abstract: 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… read more here.
Keywords: limb girdle; muscular dystrophies; girdle muscular;
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9137-8
Abstract: ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.MethodsWhole exome sequencing was performed for adult-onset neuromuscular disease patients with no… read more here.
Keywords: type; adult onset; onset limb; limb girdle ... See more keywords
Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-020-05021-0
Abstract: Background: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. Case presentation: Herein, we report a case of… read more here.
Keywords: heterozygous variants; rimmed vacuoles; muscle; congenital myasthenic ... See more keywords
Quality of life in adult patients with limb–girdle muscular dystrophies
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-017-0857-9
Abstract: Abstract Although limb–girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD,… read more here.
Keywords: qol patients; limb girdle; girdle muscular; quality life ... See more keywords
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.05.001
Abstract: Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdle muscular dystrophy 1F (LGMD1F)… read more here.
Keywords: limb girdle; muscular dystrophy; variant; tnpo3 ... See more keywords
Ayurvedic management in limb girdle muscular dystrophy – A case report
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Ayurveda and Integrative Medicine"
DOI: 10.1016/j.jaim.2021.07.002
Abstract: Limb girdle muscular dystrophy (LGMD) is a type of Muscular dystrophy (MD), heterogeneous devastating complex genetic disorders causing progressive weakness and degeneration of muscles. LGMD is hereditary autosomal diseases characterized by weak and wasteful limb… read more here.
Keywords: girdle muscular; muscular dystrophy; limb girdle; limb ... See more keywords
Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.12.003
Abstract: Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes. We report a Portuguese patient with a very late-onset LGMD phenotype, whose muscle biopsy and immunostaining,… read more here.
Keywords: late onset; limb girdle; muscle; muscle biopsy ... See more keywords