A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease

We present a case with the clinical features and biochemical findings, abnormal brain magnetic resonance imaging as well as the effects of treatment with copper-histidine. Direct sequencing of ATP7A gene revealed a de novo point mutation which resulted in an early stop codon with truncated protein.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Source Type: research