MFN2	Mitofusin-2
CMT2A	Charcot–Marie–Tooth disease type 2A
HMSN V	Hereditary motor and sensory neuropathy type V
NCSs	Nerve conduction studies
CMAP	Compound muscle action potential
SNAP	Sensory nerve action potential
CVs	Conduction velocities
MEPs	Motor evoked potentials
SEPs	Somatosensory evoked potentials
NGS	Next-generation sequencing
HSP	Hereditary spastic paraplegia
ACMG/AMP	American College of Medical Genetics and Genomics/Association for Molecular Pathology
CADD	Combined Annotation Dependent Deletion
REVEL	Rare Exome Variant Ensemble Learner
HR2	Heptad-repeat