A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.08.015
Abstract: Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided… read more here.
Keywords: rod myopathy; core disease; core myopathy; core rod ... See more keywords
A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications
Sign Up to like & getrecommendations! Published in 2020 at "Neuropathology"
DOI: 10.1111/neup.12648
Abstract: Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and… read more here.
Keywords: novel homozygous; core disease; ryr1; dusty core ... See more keywords
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050760
Abstract: Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe… read more here.
Keywords: disease; biallelic monoallelic; facial weakness; central core ... See more keywords
Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur
Sign Up to like & getrecommendations! Published in 2018 at "Indian Journal of Anaesthesia"
DOI: 10.4103/ija.ija_570_17
Abstract: How to cite this article: Munjal S, Kumar J, Kumar P, Mehta VS. Keloid formation on neck after jugular central venous catheter placement: An unsightly unusual complication in a young female. Indian J Anaesth 2018;62:82-4.… read more here.
Keywords: hip dislocation; congenital hip; core disease; disease scoliosis ... See more keywords