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, 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