Early clinical heterogeneity in choreoacanthocytosis.
BACKGROUND: Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene. OBJECTIVE: To describe the early clinical features and possible genotype-pheno...
Main Authors: | , , , , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
2005
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