Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN) is a rare autosomal recessive, early-onset and fatal neurodegenerative disorder which develops into severe impairments in both peripheral and central nervous systems. METHODS AND RESULTS: Trio-WES analysis was used to detect genetic mutations associated with disorders, and Sanger sequencing was used to confirm the mutations in the patient. We identified two novel...

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