The Neuromuscular Disease Network for Canada


Latest edition of the Journal of Neuromuscular Diseases now online – Sep 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:

Journal of Neuromuscular Diseases: Volume 7, issue 4

*NMD4C lead investigator Hanns Lochmüller is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.


Articles in this issue:

  • Towards central nervous system involvement in adults with hereditary myopathies
  • Induction of skeletal muscle progenitors and stem cells from human induced pluripotent stem cells
  • Lower extremity muscle involvement in the intermediate and Bethlem myopathy forms of COL6-related dystrophy and Duchenne muscular dystrophy: A cross-sectional study
  • Ganglionopathies associated with MERRF syndrome: An original report
  • Respiratory dysfunction in Becker muscular dystrophy patients: A case series and autopsy report
  • Decision-making and selection bias in four observational studies on Duchenne and Becker muscular dystrophy
  • Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations
  • Natural history of type 1 spinal muscular atrophy in a series of Argentinian children
  • Neuroanatomical models of muscle strength and relationship to ambulatory function in spinal muscular atrophy
  • Facilitators and barriers to wearing hand orthoses by adults with Duchenne muscular dystrophy: A mixed methods study design
  • Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio)
  • Swallowing, chewing, and speaking: Frequently impaired in oculopharyngeal muscular dystrophy
  • Correlation between quantitative MRI and muscle histopathology in muscle biopsies from healthy controls and patients with IBM, FSHD, and OPMD
  • A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
  • Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists
  • Familial oculo-leptomeningeal transthyretin amyloidosis caused by Leu55Arg mutation
  • Taking a Strohl through history: Putting Strohl back in Guillain-Barré-Strohl syndrome
  • Measuring outcomes in adults with spinal muscular atrophy: Challenges and future directions – Meeting report

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