P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question
Reynold Ly,
Kayla Treat,
Brett Graham,
Erin Conboy,
Anna Boccaccio,
Francesco Vetrini
Affiliations
Reynold Ly
Laboratory Genetics & Genomics Fellow, Indiana University School of Medicine
Kayla Treat
Indiana University School of Medicine and Undiagnosed Rare Disease Clinic (URDC)
Brett Graham
Indiana University School of Medicine and Undiagnosed Rare Disease Clinic (URDC)
Erin Conboy
Indiana University School of Medicine and Undiagnosed Rare Disease Clinic (URDC)
Anna Boccaccio
National Research Council (CNR)
Francesco Vetrini
Indiana University School of Medicine and Undiagnosed Rare Disease Clinic (URDC)
