A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

Medicine and Dentistry

• Myopathy 100%
• Missense Mutation 60%
• Myosin 40%
• External Ophthalmoplegia 40%
• Childbirth 40%
• Muscle Weakness 20%
• Respiratory Distress 20%
• Plummer-Vinson Syndrome 20%
• Neuromuscular Disease 20%
• Ophthalmoparesis 20%
• Gene 20%
• Joint Contracture 20%
• Family 20%
• Patient 20%
• Muscle 20%

Neuroscience

• Muscle Disorder 100%
• Missense Mutation 60%
• Myosin 40%
• Dysphagia 20%
• Gene 20%
• Ophthalmoparesis 20%
• Neuromuscular Disorder 20%

Immunology and Microbiology

• Missense Mutation 60%
• Mutation 40%
• Birth 40%
• Muscle 40%
• Spectrum 20%
• Gene 20%
• Joint 20%