Cystinosis distal myopathy, novel clinical, pathological and genetic features
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.05.010
Abstract: Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand… read more here.
Keywords: pathological genetic; nephropathic cystinosis; clinical pathological; distal myopathy ... See more keywords
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study
Sign Up to like & getrecommendations! Published in 2025 at "BMC Musculoskeletal Disorders"
DOI: 10.1186/s12891-025-09282-8
Abstract: GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the presence of rimmed… read more here.
Keywords: genetic characteristics; gne; clinical pathological; pathological genetic ... See more keywords
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.815556
Abstract: Background To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy. Methods A descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD.… read more here.
Keywords: saudi arabia; pathological genetic; clinical neurophysiological; neurophysiological radiological ... See more keywords