The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09209-z
Abstract: ObjectiveThe histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.MethodsWe performed a retrospective multi-centre cohort study focussing on the histopathological… read more here.
Keywords: due ryr1; malignant hyperthermia; ryr1 mutations; ryr1 ... See more keywords
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.09.009
Abstract: RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have… read more here.
Keywords: ryr1 mutations; compound heterozygous; multiplex congenita; arthrogryposis multiplex ... See more keywords
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.73718
Abstract: To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or… read more here.
Keywords: ryr1 mutations; muscle; mouse model; muscle strength ... See more keywords