Leading Myotubular Myopathy scientists publish a new review summarising all that has been learnt about x-linked myotubular myopathy, from when Spiro first described the condition in 1966, to the identification of the mtm1 gene by Jocelyn Laporte in 1996, to the latest findings through clinical trials in 2021.
The paper covers the genetics and clinical features of the condition, and what is now understood about the role of the protein myotubularin and how the absence of this protein seems to cause the features of x-linked myotubular myopathy.
You find open access at: https://www.nmd-journal.com/article/S0960-8966(21)00605-2/fulltext
Or download a copy of the paper ‘X-Linked Myotubular Myopathy’ Lawlor & Dowling here (PDF)
