Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1804
Abstract: BACKGROUND Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies. METHODS Congenital myopathy presents a diagnostic challenge due to the need for multiple… read more here.
Keywords: congenital myopathy; rna sequencing; neonatal brain; intronic variants ... See more keywords
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.12.024
Abstract: Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type… read more here.
Keywords: congenital myopathy; multiminicore disease; congenital muscular; muscular dystrophy ... See more keywords
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlab012
Abstract: Nemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18 Dutch NEM6 patients and correlate… read more here.
Keywords: kbtbd13 related; congenital myopathy; microscopy; ring rods ... See more keywords
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108341
Abstract: Background Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by… read more here.
Keywords: congenital myopathy; variants fxr1; fxr1 related; muscle ... See more keywords
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-190425
Abstract: BACKGROUND The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now… read more here.
Keywords: congenital myopathy; myotonia; novel novo; novo heterozygous ... See more keywords