Autosomal dominant slowed nerve conduction velocity

Disease Export to PDF
Name:
Autosomal dominant slowed nerve conduction velocity
Description:
A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
ORPHAcode:
140481
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14