October 2021 Newsletter

The October 2021 issue of the NMD4C newsletter is now available!

We announce a new fellowship funding opportunity for early-career clinicians, share the appointments of early-career members of the network to the leadership of three working groups, and provide a summary of the various neuromuscular awareness days and months' activities from September. Plus upcoming events and webinars, opportunities meet the team spotlights, and more!

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New research

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

  • Dr. Andrea Gangfuß with Dr. Hanns Lochmüller (lead investigator) as a co-author.


Immune Checkpoint Inhibitor-Associated Myocarditis With Persistent Troponin Elevation Despite Abatacept and Prolonged Immunosuppression

  • Dr. Shiying Liu, with Dr. Aaron Izenberg (collaborator) as a co-author.


Epilepsy in children with cerebral palsy: a data linkage study

  • Dr. Aliya Szpindel, with Dr. Maryam Oskoui (investigator) as a co-author.


Progressive Neurochemical Abnormalities in Cognitive and Motor Subgroups of Amyotrophic Lateral Sclerosis: A Prospective Multicenter Study

  • Dr. Daniel Ta with Dr. Lawrence Korngut (investigator) as a co-author.


Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature

  • Dr. Hugh McMillan (investigator).


Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices

  • Dr. Kristiana Salmon, with Dr. Aaron Izenberg (collaborator) as a co-author.


Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

  • Dr. Sarah Smith, with Dr. James Dowling (steering committee) as a co-author.


Characterization of sleep-disordered breathing in children with Duchenne muscular dystrophy by the American Academy of Sleep Medicine criteria versus disease specific criteria: what are the differences?

  • Dr. Manju Hurvitz with Dr. Reshma Amin (investigator) as a co-author.