Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

Abstract excerpt

BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing. METHODS: Here, we report the clinical presentation of two siblings with a novel genetic form of Behr syndrome. We...

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