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#