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Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study

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 p...

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Detalles Bibliográficos
Autores principales: Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585727/
https://www.ncbi.nlm.nih.gov/pubmed/30019529
http://dx.doi.org/10.1002/cm.21479