Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

• Main Authors: Arthaporn Khongkraparn, Nitcha Khunin, Thipwimol Tim-Aroon, Tanit Virankabutra, Duangrurdee Wattanasirichaigoon
• Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
• Format: Article
• Published: 2022
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/75082
• Institution: Mahidol University

Objective: To use whole exome sequencing (WES) in identifying pathogenic allele(s) in a challenging family of which specimen of the malignant hyperthermia (MH)-suspected case was not available. Points related to genetic counseling were also discussed. Materials and Methods: A counselee walked in for...