OPA1 as a causative gene of optic atrophy or sensorimotor neuropathy and method for diagnosing the disease using the same

摘要

A composition or kit for diagnosing optic atrophy or sensory motor neuropathy comprising OPA1 protein variant or OPA1 gene variant, and a preparation capable of specifically detecting them, and a method of diagnosing said disease using the same. It is possible to effectively predict or diagnose optic atrophy or sensory motor neuropathy by detecting the mutant, and further to develop a drug for treating optic atrophy or sensory motor neuropathy.