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Article

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

Neuromuscular disorders : NMD - 1 Nov 2010

Tasca Giorgio, Mirabella Massimiliano, Broccolini Aldobrando, Monforte Mauro, Sabatelli Mario, Biscione Gian Luca, Piluso Giulio, Gualandi Francesca, Tonali Pietro Attilio, Udd Bjarne, Ricci Enzo

Abstract excerpt

Hereditary myopathy with early respiratory failure (HMERF) is a rare disorder characterized by severe respiratory involvement at onset, muscle weakness starting in the early adulthood, and cytoplasmic bodies with peculiar immunohistochemical reactivity on muscle biopsy. Here we describe a patient who presented with hypercapnic coma at age 32. A detailed light and electron microscopy analysis on muscle biopsy was...

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Identifiers

PMID: 20708934
DOI: 10.1016/j.nmd.2010.07.269

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TTN

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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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