Centronuclear myopathy (CNM): genetic classification
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Centronuclear myopathy (CNM): genetic classification. This is caused by mutations in the myotubularin (MTM1) gene on chromosome Xq. It is severe in males.
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)
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Autosomal recessive CNM
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Isolated genetic mutations
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Other CNMs
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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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