X-linked myotubular myopathy (XLMTM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
X-linked myotubular myopathy (XLMTM). This is caused by mutations in the myotubularin (MTM1) gene on chromosome Xq. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the myotubularin (MTM1) gene on chromosome Xq
- The mutations impair myotubularin protein: this is a phosphoinositide phosphatase
- The transmission is X-linked
Prenatal features
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Orthopaedic features
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Neurological features
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Dysmorphic features
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Respiratory features
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Gastrointestinal features
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Systemic features
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Absent features
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Female XLMTM carriers: phenotypes
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Clinical course
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Female XLMTM carriers: clinical features
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Muscle biopsy: features
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Investigational treatment
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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.
- Beggs AH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study. Muscle Nerve 2018; 57:550-560.
- Franken DK, Bouman K, Reumers SFI, et al. Neuromuscular features in XL-MTM carriers: a cross-sectional study in an unselected cohort. Neurology 2022; 99:e2223-e2233.
- Abath Neto O, Silva MR, Martins Cde A, et al. A study of a cohort of X-linked myotubular myopathy at the clinical, histologic, and genetic levels. Pediatr Neurol 2016; 58:107-12.
- Amburgey K, Tsuchiya E, de Chastonay S, et al. A natural history study of X-linked myotubular myopathy. Neurology 2017; 89:1355-1364.
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