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Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.

Neuromuscular disorders : NMD - 1 Mar 2018

Tasca Giorgio, Udd Bjarne

Abstract excerpt

Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with definite clinicopathologic hallmarks, and geographically restricted to the Northern European population with one single titin gene defect identified in previous years. The recent...

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PMID: 29361395
DOI: 10.1016/j.nmd.2017.12.002

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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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