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
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-018-0595-0
Abstract: Few genes (RYR1, NEB, ACTA1, CFL2, KBTBD13) have been associated with core-rod congenital myopathies [7]. KBTBD13 belongs to the Kelch-repeat super-family of proteins and is implicated in the ubiquitination pathway. Dominant mutations in KBTBD13 have… read more here.
Keywords: rod myopathy; novel mutation; due novel; rod ... See more keywords