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- W3043134569 abstract "In August 1921, the Journal of Neurology, Neurosurgery and Psychiatry (JNNP) published a case of recurrent hypertrophic neuritis,1 which detailed the clinical course of a patient with a likely inherited neuropathy. Although unknown in 1921, this article foreshadowed the critical role that genetics would play in altering the course of neuromuscular diseases in the next 100 years. In fact, 98 years later JNNP published a review on peripheral neuropathy in complex inherited diseases.2 As a group of disorders, neuromuscular diseases include entities that affect muscle, the neuromuscular junction, peripheral nerves, nerve roots and motor neurons. At each location, genetic alterations can result in severe disease, resulting in mild-to-severe disability for those carrying mutations. The progress made in our understanding of the genetic aetiology of neuromuscular diseases in the last 100 years is remarkable. When JNNP first began publishing articles the structure of DNA was unknown, and today we have effective gene-targeted therapies that alter the course of multiple neuromuscular diseases. One year ago, we were challenged to consider the ‘most important or transformative development in neurology’ in the past 100 years and how JNNP contributed to this achievement given its broad scope.3 To our surprise, no nomination for neuromuscular disorders made the final list.4 Therefore, we wish to put forth a nomination for neuromuscular disorders. All articles cited for this nomination are published in JNNP. We contend the subspeciality …" @default.
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- W3043134569 date "2020-07-14" @default.
- W3043134569 modified "2023-09-27" @default.
- W3043134569 title "A 2020 centenary perspective on neuromuscular disorders" @default.
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- W3043134569 doi "https://doi.org/10.1136/jnnp-2020-324327" @default.
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