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Article

The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family.

Acta neurologica Belgica - 1 Aug 2023

Sun Sujuan, Zhao Wei, Liu Xuewu

Abstract excerpt

OBJECTIVE: To describe the clinical, radiological, and genetic characteristics of a Chinese family with dentatorubropallidoluysian atrophy (DRPLA). Explore the distribution of CAG repeat size to the clinical features of patients. METHODS: We collected the clinical symptoms and DNA analysis for the DRPLA gene was performed on the family members. DRPLA patients reported in the literature were reviewed to analyze...

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PMID: 37243799
DOI: 10.1007/s13760-023-02288-w

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