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Updated: Jun 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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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

Summary

This summary is machine-generated.

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.

Area of Science:

Genetics
Neuromuscular Disorders
Molecular Biology

Background:

Distal myopathies (DM) are heterogeneous neuromuscular disorders with challenging genetic diagnosis.
Overlapping symptoms can lead to misdiagnosis as hereditary neuropathies, like Charcot-Marie-Tooth disease.

Keywords:

FLNC GS distal myopathy genome sequencing muscle MRI neuromuscular disease structural variant

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