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February 12, 2026Case Reports in GeneticsOpen Access

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report

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Authors

UNUrsula Abu NahlaRBRahaf BleibelMAMai Arafeh

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Overview

A case report explores genetic findings in hereditary myopathy with respiratory failure, highlighting the role of genome testing.

Key Points

  • To report a case of hereditary myopathy with early respiratory failure and explore incidental findings associated with COL4A5.
  • Clinical evaluation of a 34-year-old male with progressive muscle weakness and respiratory issues.
  • MRI to assess muscle atrophy and fatty replacement.
  • Needle electromyography (EMG) to investigate myopathy characteristics.
  • Whole-exome sequencing to identify genetic variants.
  • Confirmed a pathogenic TTN variant associated with hereditary myopathy.
  • Identified a hemizygous COL4A5 variant of uncertain significance.
  • Noted family history of similar symptoms in the patient’s mother and sister.

Cite This Study

Nahla et al. (2026) studied this question.

synapsesocial.com/papers/698d6e5a5be6419ac0d54029https://doi.org/10.1155/crig/1630468
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