What is it about?

A family with heterogeneous clinical findings in two siblings

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Why is it important?

micro-RNA study

Perspectives

This is a novel mutation in connexin-32 with serum micro-RNA biomarkers

Prof Corrado Angelini
Universita degli Studi di Padova Polo Bibliotecario di Scienze Farmacologia e Scienze Farmaceutiche

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This page is a summary of: Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene, Muscles, May 2022, MDPI AG,
DOI: 10.3390/muscles1010007.
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