A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy

MeSH terms

• Alleles*
• Biological Variation, Population*
• Consanguinity
• DNA Mutational Analysis
• Humans
• Loss of Function Mutation*
• Muscular Diseases / diagnosis*
• Muscular Diseases / genetics*
• MyoD Protein / genetics*
• Phenotype*
• Radiography