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pro vyhledávání: '"Carmela V. San Luis"'
A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report
Autor:
Carmela V. San Luis MD, Coreen Schwartzlow MD, Kenkichi Nozaki MD, PhD, Eroboghene E. Ubogu MD
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with p
Externí odkaz:
https://doaj.org/article/398329859ded4f039c7597b4fc5a44dc
Publikováno v:
Cureus.
Publikováno v:
Journal of Clinical Neuromuscular Disease. 24:164-165
Publikováno v:
Journal of neurovirology. 28(1)
Symptoms of autonomic dysfunction, particularly those of orthostatic intolerance, continue to represent a major component of the currently recognized post-acute sequelae of SARS-CoV-2 infections. Different pathophysiologic mechanisms can be involved