December 2021 Newsletter

The December 2021 issue of the NMD4C newsletter is now available! Read our 2021 Year in Review, learn about new ways the NMD4C can help you share your neuromuscular events, Dr. Hanns Lochmüller receives MDC's Dr. George Karpati award, and we wrap up the final session of the Defeat Duchenne Canadian Conference! Plus new research, a postdoc opportunity with GRIMN, webinar recordings, members spotlights and more!

New research


Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis


miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

  • Dr. Demetris Koutalianos, with Dr. Hanns Lochmüller (lead investigator) as a co-author.


Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis

  • Dr. Eduardo Estephan with Dr. Hanns Lochmüller (lead investigator) as a co-author.


High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases


MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder


X-linked myotubular myopathy

  • Dr. Michael Lawlor with Dr. James Dowling (steering committee) as a co-author.


Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia


Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study

  • Dr. William Beauchesne with Dr. Cynthia Gagnon (investigator) as a co-author.


Assessment of muscular strength and functional capacity in the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study


Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay


Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

  • Dr. Perry Shieh, with Dr. Craig Campbell (investigator) as a co-author.


Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression

  • Dr. Eleonora Maino, with Dr. Daria Wojtal (investigator) as a co-author.


Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy


Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

  • Dr. Irit Hochberg, with Dr. Hugh McMillan (investigator) as a co-author.

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