Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

Keyphrases

• X Chromosome Inactivation 100%
• Non-manifesting Carriers 100%
• Idiopathic Dilated Cardiomyopathy 100%
• Manifesting Carriers 100%
• X-linked Disorder 66%
• Heterozygous Carrier 66%
• Myofibrillar Myopathy 66%
• MGMT Gene 66%
• Muscle Weakness 33%
• Male Offspring 33%
• Gene mutation 33%
• Young Female 33%
• Linkage Analysis 33%
• Normal Phenotype 33%
• Muscle Disease 33%
• Muscular Hypotonia 33%
• Neonatal Period 33%
• Progressive Weakness 33%
• Facial Weakness 33%
• Xq13 33%
• Xq28 33%

Biochemistry, Genetics and Molecular Biology

• Skewed X-Inactivation 100%
• Genetic Carrier 66%
• Heterozygote 66%
• Gene Mutation 33%
• Linkage Analysis 33%
• Offspring 33%