January 2022 Issue of the Journal of Neuromuscular Diseases Available Online
Published: 19 January 2022
The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its first issue of 2022!
In Volume 9, Issue 1 of the JND almost half of all the articles are open access, with this latest issue containing a range of reviews and research papers.
Of note for the Lochmüller Lab is the publication Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation from Dr. Shahyan Siddiqui, on which Dr. Hanns Lochmüller and postdoc Dr. Kiran Polavarapu are co-authors.
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New Publication: Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice
Congenital Myasthenic Syndromes (CMS) are a group of rare inherited neuromuscular disorders caused by genetic defects at the neuromuscular junction (NMJ). Patients with CMS experience...