Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

Medicine and Dentistry

• Phenotype 80%
• Family 80%
• Emerin 80%
• Missense Mutation 60%
• Emery Dreifuss Muscular Dystrophy 60%
• Symptom 20%
• Mutant Protein 20%
• Contracture 20%
• Clinical Feature 20%
• Analysis 20%
• Absence 20%
• Ankle 20%
• Onset Age 20%
• Diagnosis 20%
• Genotype 20%
• Gene 20%
• Muscle Weakness 20%
• Development 20%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• Emerin 80%
• Phenotype 80%
• Missense Mutation 60%
• Nested Gene 20%
• Age 20%
• Mutant Protein 20%
• Development 20%
• Sequencing 20%
• Genotyping 20%