Associated Papers
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M et al.
Journal of Human Genetics, 2022
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.
Aruta F et al.
Journal of the Peripheral Nervous System : Jpns, 2021
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