A De Novo Gain-of-Function ANO5 Variant in a Patient with Anoctaminopathy5-related Muscular Dystrophy Challenges the Skeletal/Muscular Phenotype Dichotomy into Question
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Presenting Author - Reynold Ly, PhD; Co-Author - Kayla Treat, MS, CGC; Co-Author - Brett H. Graham, MD, PhD; Co-Author - Erin E. Conboy, MD, FACMG; Co-Author - Anna Boccaccio, PhD; Co-Author - Francesco Vetrini, PhD, FACMG;
Meta Tag
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Inheritance Patterns
Molecular Pathophysiology
Musculoskeletal system
Sequencing
Co-Author Kayla Treat, MS, CGC
Co-Author Brett H. Graham, MD, PhD
Co-Author Erin E. Conboy, MD, FACMG
Co-Author Anna Boccaccio, PhD
Co-Author Francesco Vetrini, PhD, FACMG
Presenting Author Reynold Ly, PhD
Keywords
ANO5 gene
ANO5-related muscular dystrophy
skeletal muscle
cardiac muscle
autosomal dominant skeletal dysplasia
autosomal recessive muscular dystrophies
rhabdomyolysis
muscle biopsy
heterozygous ANO5 variant
gain-of-function phenotype

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