Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing

Medicine and Dentistry

• Myopathy 100%
• Diagnosis 66%
• Exome Sequencing 66%
• Contracture 33%
• Limb Girdle Muscular Dystrophy 33%
• Family 33%
• Diseases 16%
• Autosomal Dominant Inheritance 16%
• Capillary 16%
• Muscular Dystrophy 16%
• Neurologic Examination 16%
• Interphalangeal Joint 16%
• Ankle 16%
• Weakness 16%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 66%
• Mutation 33%
• Case Report 33%
• Molecular Genetics 33%
• Autosomal Dominant Inheritance 16%
• Sequencing 16%
• Genetics 16%