A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Herminia Argente-EscrigJuan Jesus VilchezMarina FrasquetNuria MuelasInmaculada AzorínRoger VílchezElvira Millet-SanchoInmaculada PitarchMiguel Tomás-VilaJuan Francisco Vázquez CostaFernando Mas-EstellésClara Marco-MarínCarmen EspinósPablo Serrano-LorenzoMiguel A MartinVincenzo LupoTeresa SevillaPublished in: Neuropathology and applied neurobiology (2022)
Our study expands the phenotype of mitochondrial disorders caused by TRTM5 mutations and defines a new form of recessive demyelinating peripheral neuropathy.
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