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[A case of triple A syndrome with c.463C>T mutation in the AAAS gene].

Rinsho shinkeigaku = Clinical neurology - 28 Sept 2022

Hirosawa Hiroaki, Konishi Hirofumi, Nukui Takamasa, Hayashi Tomohiro, Dougu Nobuhiro, Nakatsuji Yuji

Abstract excerpt

A 47-year-old woman was admitted to our hospital for scrutiny of limb weakness and orthostatic hypotension that had progressed from childhood. She had been treated for alacrima and esophageal achalasia from childhood. On admission, she had hyperreflexia of upper and lower extremities, distal predominant muscle atrophy in the lower extremities, decreased sensation of the distal extremities, and autonomic...

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Identifiers

PMID: 36031376
DOI: 10.5692/clinicalneurol.cn-001743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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