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ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2025

Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.

Wilmer Santiago Herrera Malpica et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 40626679