John Rendu

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations

This study shows that the Drosophila RYR gene is essential for muscle development and function and demonstrates its utility in assessing human RYR1 mutations.

Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

In vivo RyR1 reduction in muscle triggers a core-like myopathy

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.