Centronuclear myopathy (CNM): genetic classification
Evidence-based neurology checklist on centronuclear myopathy (cnm): genetic classification: X-linked myotubular myopathy (XLMTM) This is caused by mutations in the myotubularin (MTM1) gene on chromosome Xq It is severe in males See Neurochecklist: “XLMTM” Autosomal dominant CNM (DNM2-CNM)…
X-linked myotubular myopathy (XLMTM)
- This is caused by mutations in the myotubularin (MTM1) gene on chromosome Xq
- It is severe in males
- See Neurochecklist: “XLMTM”
Autosomal dominant CNM (DNM2-CNM)
Autosomal recessive CNM
Isolated genetic mutations
Other CNMs
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.
- Jeub M, Bitoun M, Guicheney P, et al. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clin Neuropathol 2008; 27:430-438.
- Kouwenberg C, Bohm J, Erasmus C, et al. Dominant centronuclear myopathy with early childhood onset due to a novel mutation in BIN1. J Neuromuscul Dis 2017; 4:349-355.
- Böhm J, Biancalana V, Malfatti E, et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain 2014; 137:3160-3170.
- 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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