This website provides information on patients with mutations in the Myogenic Differentiation Antigen 1 (MYOD1) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the MYOD1 gene is a multisystem disorder characterized by and named Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (MYODRIF).
Not all individuals with a mutation in the MYOD1 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MYOD1 gene.

Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada,

Coralie Michaud, MD, University of Montreal, Montreal, Canada,

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