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Article

A Case Report and Literature Review of Hereditary Myopathy with Early Respiratory Failure

2026-08-31

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Hereditary myopathy with early respiratory failure (HMERF) is a rare disorder caused by TTN mutations. Early recognition via genetic and pathological correlation remains challenging. This study integrates clinical, pathological, and molecular findings to improve diagnostic awareness. <bold>Case presentation:</bold> A 53-year-old female presented with 7 year...

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Literature Corpus work
6c34f9aa-e341-590d-a6ad-8c3d524dea80
DOI
10.21203/rs.3.rs-10708403/v1
Open publication

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A Case Report and Literature Review of Hereditary Myopathy with Early Respiratory FailureDOI 10.21203/rs.3.rs-10708403/v1
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