Mosaicism for a pathogenic $\textit{MFN2}$ mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Schon, K; Spasic-Boskovic, O; Brugger, K; Graves, TD; Abbs, S; Park, S-M; Ambegaonkar, G; Armstrong, R

doi:10.1007/s10048-016-0504-2

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