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Article

Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations.

Internal medicine (Tokyo, Japan) - 1 Mar 2021

Miyazawa Haruna, Kimura Manami, Yonezawa Hisashi, Maeda Tetsuya

Abstract excerpt

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...

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Identifiers

PMID: 33087664
DOI: 10.2169/internalmedicine.5201-20
PMCID: PMC7990642

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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