The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
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DOI: 10.3390/genes12010121
Abstract: Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her… read more here.
Keywords: mutation; ventricular non; compaction cardiomyopathy; non compaction ... See more keywords