Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España

Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España

Resumen: Introducción: La ARCA1/SCAR8 es una heredoataxia recesiva causada por mutaciones en el gen SYNE1, que fue descrita inicialmente en familias francocanadienses (Quebec) con un síndrome cerebeloso puro. En la actualidad se reporta cada vez más este tipo de ataxia en otras partes del mundo y c...

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Bibliographic Details
Main Authors:	M. Arias, P. Mir, M. Fernández-Matarrubia, J. Arpa, R. García-Ramos, P. Blanco-Arias, B. Quintans, M.J. Sobrido
Format:	Article
Language:	Spanish
Published:	Elsevier España 2022-05-01
Series:	Neurología
Subjects:	Ataxia Autosomal recessive inheritance SYNE1 ARCA1 SCAR8 Sequencing
Online Access:	http://www.sciencedirect.com/science/article/pii/S0213485319300507

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