Congenital myopathy: classification
Evidence-based neurology checklist on congenital myopathy: classification: Core myopathies Central core disease (CCD) Multi-minicore disease (MmD) Core-rod myopathy (CRM) Dusty core disease (DuCD) Centronuclear myopathies Nemaline myopathies Other congenital myopathies Types no longer included…
Core myopathies
- Central core disease (CCD)
- Multi-minicore disease (MmD)
- Core-rod myopathy (CRM)
- Dusty core disease (DuCD)
Centronuclear myopathies
Nemaline myopathies
Other congenital myopathies
Types no longer included
Differential diagnoses
References
- Cassandrini D, Trovato R, Rubegni A, et al; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr 2017; 43:101.
- North KN, Wang CH, Clarke N, et al; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014; 24:97-116.
- Fusto A, Cassandrini D, Fiorillo C, et al. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. Acta Neuropathol Commun 2022; 10:54.
- Ogasawara M, Nishino I. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Neuromuscul Disord 2021; 31:968-977.
- Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68:717-726.
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