CMYO13: Myopathy, Congenital, Bailey-Bloch

Overview

● Nosology: Native American Myopathy; MYPBB; CMYP13; CMYO13 Epidemiology > 40 patients Focus: Lumbee Indians in North Carolina Other: Africa; Asia; South America Genetics Mutation Most patients: Missense; Homozygous; Trp284Ser Other mutation: c.997>1G>T splice variant Variant syndromes: Carey-Fineman-Ziter; Möbius syndrome Stac3 protein Component of excitation-contraction coupling machinery Expression: Skeletal muscle Co-localization: DHPR α-1 (CACNA1C); RYR1 Interacts with: Cav1.1 II-III loop Trafficking of Cav1.1 (Pore forming subunit of DHPR) to plasma membrane Mutation: Abnormal EC couplin

OMIM Entries

Related Conditions

External Resources