Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Keyphrases

• Disease Genes 100%
• Targeted Sequencing 100%
• Limb-girdle muscle Weakness 100%
• Pathogenic Variants 66%
• Exome Sequencing 66%
• Muscle Disease 66%
• Genetic muscle Disease 66%
• New Disease 33%
• Novel Variants 33%
• Disease Diagnosis 33%
• Neuromuscular Disease 33%
• Genetic Heterogeneity 33%
• Common Disease 33%
• Genetic Diagnosis 33%
• International Consortium 33%
• Referral Center 33%
• Disease Etiology 33%
• Exome 33%
• Clinical Heterogeneity 33%
• Phenotypic Data 33%
• CAPN3 33%
• Variant Detection 33%
• ANO5 33%
• Muscle Condition 33%
• Undiagnosed Diseases 33%
• RYR1 33%
• COL6A2 33%
• POGLUT1 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exome Sequencing 100%
• Genetic Heterogeneity 33%
• Exome 33%
• CAPN3 33%
• RYR1 33%
• COL6A2 33%
• Subependymal Giant Cell Astrocytoma 33%