RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 ( RFC1 ) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopa...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	Journal of neurology Ročník 268; číslo 11; s. 4280 - 4290
Hlavní autori:	Tagliapietra, Matteo, Cardellini, Davide, Ferrarini, Moreno, Testi, Silvia, Ferrari, Sergio, Monaco, Salvatore, Cavallaro, Tiziana, Fabrizi, Gian Maria
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Berlin/Heidelberg Springer Berlin Heidelberg 01.11.2021 Springer Nature B.V
Predmet:	Ataxia Autonomic nervous system Biopsy Cerebellar ataxia Cerebellum Medicine Medicine & Public Health Neurology Neuropathy Neuroradiology Neurosciences Original Communication Patients Polyneuropathy Reflexes Replication factor C Sensorimotor system Sural nerve Vestibular system Chronic Idiopathic Axonal Neuropathy Vestibular Areflexia Syndrome Replication factor C subunit 1 Neuropathy Cerebellar Ataxia
ISSN:	0340-5354, 1432-1459, 1432-1459
On-line prístup:	Získať plný text
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Buďte prvý, kto okomentuje tento záznam!