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