X-linked myotubular myopathy (XLMTM)
Evidence-based neurology checklist on x-linked myotubular myopathy (xlmtm): 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…
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
Orthopaedic features
Neurological features
Dysmorphic features
Respiratory features
Gastrointestinal features
Systemic features
Absent features
Female XLMTM carriers: phenotypes
Clinical course
Female XLMTM carriers: clinical features
Muscle biopsy: features
Investigational treatment
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.
- And 12 more. Subscribe to see the full list
