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)