Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ashfaque Ahmed
Ashfaque Ahmed
Gaber Bergant
Gaber Bergant
Rongjuan Zhao
Rongjuan Zhao
Marwan Nashabat
Marwan Nashabat
Christian Beetz
Christian Beetz
Yan Qin
Yan Qin

Human genetics, 2020.

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Abstract:

We aimed to detect the causative gene in five unrelated families with recessive inheritance pattern neurological disorders involving the central nervous system, and the potential function of the NEMF gene in the central nervous system. Exome sequencing (ES) was applied to all families and linkage analysis was performed on family 1. A mini...More

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