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
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
Sign Up to like & getrecommendations! Published in 2019 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.12.001
Abstract: In a previous report of a new phenotype with predominant scapulo-humeral-peroneal-distal myopathy associated with the Glu197Asp mutation in ACTA1, muscle biopsies did not show nemaline rods, nor could nemaline rods formation be demonstrated in an… read more here.
Keywords: nemaline rods; glu197asp mutation; distal myopathy; mutation acta1 ... See more keywords
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.03.006
Abstract: We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is… read more here.
Keywords: congenital asymmetric; myopathy hemifacial; weakness; deletion ... See more keywords
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000231
Abstract: GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of… read more here.
Keywords: iranian jewish; non gne; quadriceps sparing; gne ... See more keywords
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200006
Abstract: Objectives The c.254C>G (p.S85C) MATR3 variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness, dysphonia, dysphagia, and respiratory impairment. Herein, we describe an… read more here.
Keywords: distal myopathy; s85c matr3; weakness; matr3 ... See more keywords