Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance
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Presenting Author - Madhuri Hegde, PhD, FACMG; Co-Author - Babi Nallamilli, PhD, FACMG; Co-Author - Yinghong Pan, PhD; Co-Author - Jagannathan Lakshmanan, PhD; Co-Author - Vinish Ramachander, PhD; Co-Author - Ruby Liu, PhD, CGC;
Meta Tag
Genetic Testing
Musculoskeletal system
NextGen Sequencing
Co-Author Babi Nallamilli, PhD, FACMG
Co-Author Yinghong Pan, PhD
Co-Author Jagannathan Lakshmanan, PhD
Co-Author Vinish Ramachander, PhD
Co-Author Ruby Liu, PhD, CGC
Presenting Author Madhuri Hegde, PhD, FACMG
Keywords
complex inheritance patterns
limb-girdle muscular dystrophies
multigenic inheritance
digenic inheritance
next-generation sequencing
pathogenic variants
gene panel testing
clinical suspicion of MD
dominant-dominant inheritance
MD subtypes

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