Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000022615
Abstract: Abstract Rationale: Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and… read more here.
Keywords: limb girdle; patient; dysf; muscular dystrophy ... See more keywords
O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1111/nan.12846
Abstract: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness… read more here.
Keywords: dysf variant; dominantly inherited; dysf; large family ... See more keywords
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Sign Up to like & getrecommendations! Published in 2024 at "BMC Musculoskeletal Disorders"
DOI: 10.1186/s12891-024-07354-9
Abstract: Background Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic… read more here.
Keywords: dysf; variant; novel homozygous; girdle muscular ... See more keywords