3FC2.2 Muscle MRI in congenital myopathies due to Ryanodine receptor type 1 (RYR1) gene mutations

Klein, Andrea; Jungbluth, Heinz; Clement, Emma; Lillis, S.; Abbs, Stephen; Munot, Pinki; Pane, Marika; Wraige, Elizabeth; Schara, Ulrike; Straub, V.; Mercuri, E.; Muntoni, F.

doi:10.1016/s1090-3798(11)70096-4

Cited by 3 publications

(4 citation statements)

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“…MEGF10-related myopathies are associated with a very wide spectrum, ranging from a severe early-onset myopathy with areflexia, respiratory distress and dysphagia (termed EMARDD) 21,23,24 to adult-onset cases with minicores on muscle biopsy 22 . Muscle MRI may help to differentiate genetically distinct core myopathies 28,29 .…”

Section: Congenital Myopathies With Cores -Ccd MMD and Mhmentioning

confidence: 99%

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

et al. 2018

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The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. Pronounced weakness in axial and proximal muscle groups is a common feature, and involvement of extraocular, cardiorespiratory and/or distal muscles can implicate specific genetic defects. Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the first congenital myopathies to be reported, and they still represent the main diagnostic categories. However, these entities seem to belong to a much wider phenotypic spectrum. To date, congenital myopathies have been attributed to mutations in over 20 genes, which encode proteins implicated in skeletal muscle Ca homeostasis, excitation-contraction coupling, thin-thick filament assembly and interactions, and other mechanisms. RYR1 mutations are the most frequent genetic cause, and CCD and MmD are the most common subgroups. Next-generation sequencing has vastly improved mutation detection and has enabled the identification of novel genetic backgrounds. At present, management of congenital myopathies is largely supportive, although new therapeutic approaches are reaching the clinical trial stage.

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Section: Congenital Myopathies With Cores -Ccd MMD and Mhmentioning

confidence: 99%

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

et al. 2018

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“…Although still discernible, the contrast between affected and unaffected muscles is often not as prominent in recessive compared with dominant RYR1-related CCD. [18][19][20] RYR1 mutation screening: Genomic sequencing of coding regions and flanking intronic sequence by conventional Sanger sequencing is currently the main strategy for RYR1 mutation screening in CCD. In future, array CGH, next generation sequencing and/or multiplex ligation-dependent probe amplification are likely to enable the additional detection of larger deletions, duplications and genomic rearrangements, 21 although the latter are likely to have a more prominent role in recessively inherited RYR1-related myopathies such as MmD 22 than typical, dominantly inherited CCD.…”

Section: Analytical Methods Selection Criteriamentioning

confidence: 99%

“…Some individuals with RYR1-related CCD may be at an increased risk of suffering MH reactions in response to volatile anaesthetics and muscle relaxants, and genetic confirmation of the diagnosis will lead to initiation of appropriate testing and preventive measures around operative procedures. 20 Initiation of pharmacological treatments such as salbutamol may be of benefit in some individuals with RYR1-related CCD. The risk of a primary cardiomyopathy is probably higher in RYR1-negative patients with CCD and follow-up should be planned accordingly.…”

Section: (Please Describe)mentioning

confidence: 99%

Clinical utility gene card for: Central core disease

et al. 2011

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“…Extraocular muscle involvement is mainly a feature in RYR1-related MmD. Muscle MRI may help to differentiate genetically distinct core myopathies 11 .…”

Section: The "Classical" Congenital Myopathiesmentioning

confidence: 99%