A Novel Intronic MPV17 Variant Causing Charcot‐Marie‐Tooth Disease Type 2EE With Severe Gastrointestinal Dysmotility

MPV17 ‐related mitochondrial DNA depletion syndrome typically presents with early‐onset liver failure and neurologic decline. However, a rare subset of MPV17 mutations causes Charcot‐Marie‐Tooth disease type 2EE, an axonal sensorimotor neuropathy without hepatic involvement. We describe two siblings with Charcot‐Marie‐Tooth disease type 2EE due to a novel homozygous intronic MPV17 variant c.70 + 4A>G. Functional studies confirmed abnormal messenger RNA splicing linked to this variant. Both cases experienced severe gastrointestinal dysmotility with cyclic vomiting syndrome. These findings expand the known clinical and molecular spectrum of MPV17 and underscore the importance of considering mitochondrial disorders in children with unexplained neuropathy and gastrointestinal dysmotility.