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Updated: Jun 6, 2026

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FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

Dmitrii Subbotin1, Anait Voskanyan1, Artem Borovikov1

  • 1Research Centre for Medical Genetics, Moscow, Russia.

American Journal of Medical Genetics. Part A
|June 5, 2026
PubMed
Summary

Genome sequencing identified a novel FLNC gene variant causing distal myopathy (DM) in a family misdiagnosed with hereditary neuropathies. This discovery expands understanding of FLNC-related muscle disorders.

Keywords:
FLNCGSdistal myopathygenome sequencingmuscle MRIneuromuscular diseasestructural variant

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