Article
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Human molecular genetics - 1 Oct 2017
Raess Matthieu A, Cowling Belinda S, Bertazzi Dimitri L, Kretz Christine, Rinaldi Bruno, Xuereb Jean-Marie, Kessler Pascal, Romero Norma B, Payrastre Bernard, Friant Sylvie, Laporte Jocelyn
Abstract excerpt
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth...
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