Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

Christoph Bachmann, Martina Franchini, Luuk R Van den Bersselaar, Nick Kruijt, Nicol C Voermans, Karlijn Bouman, Erik-Jan Kamsteeg, Karl Christian Knop, Lucia Ruggiero, Lucio Santoro, Yoram Nevo, Jo Wilmshurst, John Vissing, Michael Sinnreich, Daniele Zorzato, Francesco Muntoni, Heinz Jungbluth, Francesco Zorzato, Susan Treves

Research output: Contribution to journalArticlepeer-review


Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation-contraction coupling, calcium regulation, sarcomeric proteins and thin-thick filament interaction. However, mutations in genes encoding proteins involved in other physiological functions (for example mutations in and , which encode for ubiquitously expressed proteins of low tissue specificity) have also been identified. This intriguing observation indicates that the presence of a genetic mutation impacts the expression of other genes whose product is important for skeletal muscle function. The aim of the present investigation was to verify if there are common changes in transcript and microRNA expression in muscles from patients with genetically heterogeneous congenital myopathies, focusing on genes encoding proteins involved in excitation-contraction coupling and calcium homeostasis, sarcomeric proteins, transcription factors and epigenetic enzymes. Our results identify , and miRNA-22 as common transcripts whose expression is decreased in muscles from congenital myopathy patients. The resulting protein deficiency may contribute to the muscle weakness observed in these patients. This study also provides information regarding potential biomarkers for monitoring disease progression and response to pharmacological treatments in patients with congenital myopathies. [Abstract copyright: © The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.]
Original languageEnglish
Pages (from-to)fcac224
JournalBrain Communications
Issue number5
Early online date2 Sept 2022
Publication statusE-pub ahead of print - 2 Sept 2022


  • expression
  • muscle biopsies
  • congenital myopathies
  • transcripts miRNAs
  • mutations


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