Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Autor:	Hisashi Yonezawa, Manami Kimura, Tetsuya Maeda, Haruna Miyazawa
Rok vydání:	2021
Předmět:	Adult Male Pathology medicine.medical_specialty Allgrove Syndrome c.881delT Case Report Nerve Tissue Proteins macromolecular substances 030204 cardiovascular system & hematology Triple-A syndrome nerve conduction study 03 medical and health sciences 0302 clinical medicine Internal Medicine Humans Medicine triple A (Allgrove) syndrome Gene medicine.diagnostic_test business.industry c.835C>T General Medicine Motor neuron medicine.disease Esophageal Achalasia Nuclear Pore Complex Proteins medicine.anatomical_structure ALADIN nervous system Deletion mutation Mutation motor neuron disease Nerve conduction study 030211 gastroenterology & hepatology business Adrenal Insufficiency
Zdroj:	Internal Medicine
ISSN:	1349-7235 0918-2918
Popis:	In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42a5a5972a9c2331b1734571451ef05 https://doi.org/10.2169/internalmedicine.5201-20 Zobrazit plný text záznamu