Article
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
European journal of neurology - 1 Jan 2024
Cortese Andrea, Currò Riccardo, Ronco Riccardo, Blake Julian, Rossor Alex M, Bugiardini Enrico, Laurà Matilde, Warner Tom, Yousry Tarek, Poh Roy, Polke James, Rebelo Adriana, Dohrn Maike F, Saporta Mario, Houlden Henry, Zuchner Stephan, Reilly Mary M
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB. METHODS: Whole-exome sequencing was performed in two unrelated families with genetically unsolved axonal Charcot-Marie-Tooth disease (CMT2),...
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