Article
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Neuropathology and applied neurobiology - 1 Aug 2022
Argente-Escrig Herminia, Vílchez Juan J, Frasquet Marina, Muelas Nuria, Azorín Inmaculada, Vílchez Roger, Millet-Sancho Elvira, Pitarch Inmaculada, Tomás-Vila Miguel, Vázquez-Costa Juan F, Mas-Estellés Fernando, Marco-Marín Clara, Espinós Carmen, Serrano-Lorenzo Pablo, Martin Miguel A, Lupo Vincenzo, Sevilla Teresa
Abstract excerpt
AIMS: 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. METHODS: We performed whole-exome sequencing on genomic DNA from the patients and their parents and reviewed the clinical, muscle and nerve data, the serial...
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