IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed resp...

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Detalles Bibliográficos
Autores principales: Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, Reilly, Mary M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219/
https://www.ncbi.nlm.nih.gov/pubmed/30385095
http://dx.doi.org/10.1016/j.nmd.2018.08.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219/
https://www.ncbi.nlm.nih.gov/pubmed/30385095
http://dx.doi.org/10.1016/j.nmd.2018.08.010

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