Article
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
Cytoskeleton (Hoboken, N.J.) - 1 Jan 2019
Neubauer Katharina, Boeckelmann Doris, Koehler Udo, Kracht Julia, Kirschner Janbernd, Pendziwiat Manuela, Zieger Barbara
Abstract excerpt
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of the brachial plexus. In this study, we report on a family of Lebanese descent with HNA onset in early childhood. The affected family members presented with platelet dysfunction. Platelet aggregation was reduced after stimulation with the agonists ADP and...
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