A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12817
Abstract: We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the underlying genetic changes. read more here.
Keywords: mutation causes; trmt5 mutation; causes complex; novel trmt5 ... See more keywords