Human pathology

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myotubular myopathies

Types

- autosomal myotubular myopathies
- X-linked myotubular myopathy

Etiology

- myotubularin (hMTM1) is mutated in X-linked myotubular myopathy (MIM.310400).

References

- Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family : from genetic disease to phosphoinositide metabolism. Trends Genet. 2001 Apr ;17(4):221-8. PMID : 11275328

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