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

Am J Med Genet AJun 4, 2026 (epub)
Case ReportMedical Genetics

Dmitrii Subbotin, Anait Voskanyan, Artem Borovikov et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Distal myopathies (DM) are clinically and genetically heterogeneous neuromuscular disorders, and identifying a molecular genetic cause may remain challenging in a subset of cases. Moreover, DM may be misdiagnosed as hereditary neuropathies due to overlapping clinical features.

Source

PubMed · PMID 42244138

Published in Am J Med Genet A. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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