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[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].

Orvosi hetilap - 30 Jul 2006

Merkli Hajnalka, Pál Endre, Nagy Ferenc, Horváth Rita, Várdi Visy Katalin, Komoly Sámuel, Illés Zsolt

Abstract excerpt

INTRODUCTION: Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue. METHODS: A case of a 45-year-old male patient is presented, and difficulty in diagnosis is discussed. RESULTS: The patient had been repeatedly examined because of hypersomnia, dyspnea and fatigue...

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PMID: 16977780

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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