Mosaicism for a pathogenic $\textit{MFN2}$ mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
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Abstract
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the
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1364-6753