Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Abstract excerpt

Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons. We identified patients with heterozygous nonsense mutations in the αII-spectrin gene, SPTAN1, in three separate dominant hereditary motor neuropathy families via next-generation sequencing....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Erythrocyte Function and Pathophysiology
• Share to Hereditary Neurological Disorders
• Share to Ion channel regulation and function