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A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy
A De Luca1, I Torrente, M Mangino
1Cattedra di Genetica Umana e Genetica Medica, Università di Roma Tor Vergata e Istituto CSS-Mendel, Roma, Italy.
Human Heredity
|December 22, 1998
Abstract:
The mutation is a C to T transition at nucleotide 811 of the MTM1 gene (OMIM 310400) leading to premature termination of translation at codon 271 of the myotubularin protein (R271X).