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myotubular myopathies

 

Etiology

-  myotubularin (hMTM1) is mutated in myotubular myopathy.

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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