First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Coelho, Pedro

First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. [electronic resource] - Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology May 2020 - 1289-1290 p. digital

Publication Type: Case Reports; Letter

1590-3478

10.1007/s10072-019-04179-6 doi


DNA (Cytosine-5-)-Methyltransferase 1--genetics
Hereditary Sensory and Autonomic Neuropathies--diagnosis
Humans
Male
Mutation
Pedigree
Portugal
Young Adult