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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and m …
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) …
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.
Iyer KA, Hu Y, Klose T, Murayama T, Samsó M. Iyer KA, et al. Proc Natl Acad Sci U S A. 2022 Jul 26;119(30):e2122140119. doi: 10.1073/pnas.2122140119. Epub 2022 Jul 22. Proc Natl Acad Sci U S A. 2022. PMID: 35867837 Free PMC article.
Ryanodine receptors (RyRs) are main regulators of intracellular Ca(2+) release and muscle contraction. The Y522S mutation of RyR1 causes central core disease, a weakening myopathy, and malignant hyperthermia, a sudden and potentially fatal response to anesthe …
Ryanodine receptors (RyRs) are main regulators of intracellular Ca(2+) release and muscle contraction. The Y522S mutation of RyR1 causes …
A case report of central core disease with repeated foaming at the mouth as the initial symptom.
Zhang QY, Yin YY, Bai L, Xu X. Zhang QY, et al. Medicine (Baltimore). 2023 Dec 1;102(48):e36332. doi: 10.1097/MD.0000000000036332. Medicine (Baltimore). 2023. PMID: 38050243 Free PMC article.
BACKGROUND: Central core disease (CCD) is a congenital myopathy primarily observed in infants and children. ...
BACKGROUND: Central core disease (CCD) is a congenital myopathy primarily observed in infants and children. ...
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I. Ogasawara M, et al. Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17. Neuromuscul Disord. 2021. PMID: 34627702 Review.
Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. ...
Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into c …
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A Jr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M. Cotta A, et al. Genes (Basel). 2022 Apr 26;13(5):760. doi: 10.3390/genes13050760. Genes (Basel). 2022. PMID: 35627144 Free PMC article.
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. ...
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. …
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D, Gorgoglione D, Minervini G, Fusto A, Suman M, Romualdi C, Vianello S, Capece G, Sorarù G, Marchioretti C, Pennuto M, Vedovelli L, Szabadkai G, Bello L, Pegoraro E. Sabbatini D, et al. Biomolecules. 2025 Nov 14;15(11):1599. doi: 10.3390/biom15111599. Biomolecules. 2025. PMID: 41301517 Free PMC article.
Here, we focus on patients carrying RYR1 variants and muscle histopathology consistent with central core disease (CCD) or multi-minicore disease (MmD). RNA-sequencing analyses of skeletal muscle biopsies obtained from both CCD and MmD patients and from health …
Here, we focus on patients carrying RYR1 variants and muscle histopathology consistent with central core disease (CCD) …
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL, Clayton JS. Driver K, et al. Stem Cell Res. 2023 Dec;73:103258. doi: 10.1016/j.scr.2023.103258. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38029555 Free article.
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. ...
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of …
A brief history of the congenital myopathies - the myopathological perspective.
Goebel HH, Stenzel W. Goebel HH, et al. Neuromuscul Disord. 2023 Dec;33(12):990-995. doi: 10.1016/j.nmd.2023.10.007. Epub 2023 Oct 17. Neuromuscul Disord. 2023. PMID: 37980206
The nosographic history commenced when - in addition to special histopathological techniques in the earliest classical triad of central core disease, 1956, nemaline myopathy, 1963, and centronuclear myopathy, 1966/67, within a decade - electron microscopy and …
The nosographic history commenced when - in addition to special histopathological techniques in the earliest classical triad of central …
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