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Article

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Medicine - 17 Sept 2021

Yang Haiyan, Yang Sai, Kang Qingyun, Yang Liming, Liao Hongmei, Wu Liwen

Abstract excerpt

RATIONALE: Mutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot-Marie-Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified. PATIENT CONCERNS: We reported a 27-month-old child with a developmental lag of more than 1 year. He had progressive fatigue for...

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PMID: 34664855
DOI: 10.1097/MD.0000000000027208
PMCID: PMC8448061

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