A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.

Br. J. Dermatol.2018 Sep;179(3):797-799. doi:10.1111/bjd.16832. Epub 2018 Jul 31

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