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Zeitschriftenartikel

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50391

Kornak,  U.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

Kunte, H., Trendelenburg, G., Matzen, J., Ventz, M., Kornak, U., & Harms, L. (2010). Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. Neuro Endocrinology Letters, 31(3), 301-303. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/20588230.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-7BB7-B
Zusammenfassung
A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.