Article
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS - 1 Dec 2021
Kontogeorgiou Zoi, Voudommatis Charalampos, Kartanou Chrisoula, Pandis Dionysis, Breza Marianthi, Zambelis Thomas, Stefanis Leonidas, Panas Marios, Koutsis Georgios, Karadima Georgia
Abstract excerpt
Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare hereditary neuropathy within the Charcot-Marie-Tooth disease (CMT) spectrum, linked to mutations in the histidine triad nucleotide-binding protein 1 (HINT1) gene. HINT1-related neuropathy is particularly common in selected populations from Central and Eastern Europe but rare in Western European cohorts. It has not been investigated to...
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