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

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.

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Genre: Journal Article
Alternative Title : Neuro Endocrinol Lett

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 Creators:
Kunte, H., Author
Trendelenburg, G., Author
Matzen, J., Author
Ventz, M., Author
Kornak, U.1, Author           
Harms, L., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2010-03-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 541923
URI: http://www.ncbi.nlm.nih.gov/pubmed/20588230
 Degree: -

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Title: Neuro Endocrinology Letters
  Alternative Title : Neuro Endocrinol Lett
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 31 (3) Sequence Number: - Start / End Page: 301 - 303 Identifier: ISSN: 0172-780X