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Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
- Source :
- Jungbluth, H, Treves, S, Zorzato, F, Sarkozy, A, Ochala, J, Sewry, C, Phadke, R, Gautel, M & Muntoni, F 2018, ' Congenital myopathies : Disorders of excitation-contraction coupling and muscle contraction ', Nature Reviews Neurology, vol. 14, no. 3, pp. 151-167 . https://doi.org/10.1038/nrneurol.2017.191
- Publication Year :
- 2018
- Publisher :
- Springer Science and Business Media LLC, 2018.
-
Abstract
- 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 2+ 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.
- Subjects :
- 0301 basic medicine
Weakness
Pathology
medicine.medical_specialty
ComputingMilieux_LEGALASPECTSOFCOMPUTING
Review
NO
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Nemaline myopathy
congenital myopathies
Journal Article
Humans
Medicine
Centronuclear myopathy
Excitation Contraction Coupling
RYR1
congenital myopathies, mutations, ryanodine receptors
Muscle biopsy
medicine.diagnostic_test
business.industry
Skeletal muscle
mutations
medicine.disease
Sarcoplasmic reticulum membrane
030104 developmental biology
medicine.anatomical_structure
ryanodine receptors
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Central core disease
Muscle Contraction
Myopathies, Structural, Congenital
Subjects
Details
- ISSN :
- 17594766 and 17594758
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Nature Reviews Neurology
- Accession number :
- edsair.doi.dedup.....0603e99b59cd9e56bcb942b004f85f82