A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

MeSH terms

• Adult
• Choline Kinase / genetics*
• Electron Transport Complex II / genetics
• Electron Transport Complex IV / genetics
• Female
• Humans
• Microscopy, Electron
• Muscle, Skeletal / pathology
• Muscle, Skeletal / ultrastructure
• Muscular Dystrophies / genetics*
• Mutation / genetics*
• Nerve Fibers / pathology
• Nerve Fibers / ultrastructure
• Phenotype