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Article

Titinopathy, an atypical respiratory failure.

BMJ case reports - 9 Sept 2020

Morais Joana, Oliveira Ana Andrade, Pires Olga, Burmester Inês, Regadas Maria João, Gouveia Paulo

Abstract excerpt

Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more...

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Identifiers

PMID: 32912888
DOI: 10.1136/bcr-2020-235378
PMCID: PMC7482489

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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