Article

Deep Characterization of a Greek Patient With a Desmin-Related Myoﬁbrillar Myopathy and Cardiomyopathy

2023-05-02

Abstract excerpt

Desmin is a class III intermediate filament highly expressed in cardiac, smooth and striated muscle Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here we describe the clinical, histological and radiological features of a Greek patient with a myofibrillar myopathy and cardi...

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Literature Corpus work: b673bd79-3c30-5b9c-a843-9c70636b77b5
DOI: 10.20944/preprints202305.0074.v1

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