The Neuromuscular Disease Network for Canada

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