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Article

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.

Neurogenetics - 27 Nov 2024

Poorshiri Bita, Jabbarpour Neda, Barzegar Mohammad, Bonyadi Mortaza, Ebadi Zakiyeh

Abstract excerpt

We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running. Physical and neurological examinations reveal curly blond hair, generalized muscle atrophy, slow speech and difficulty...

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PMID: 39602023
DOI: 10.1007/s10048-024-00790-8

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