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Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination

25 Jul 2016

Abstract excerpt

OBJECTIVES: The m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo-obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO. METHODS: In this large, observational cohort study, we assessed the clinical, molecular,...

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PMID: 27453452
DOI: 10.1002/ana.24736

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