Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
Naga M GurujuVanessa JumpRichard LemmersSilvère M van der MaarelRuby LiuBabi R NallamilliSuresh ShenoyAlka ChaubeyPratik KoppikarRajiv RoseSatish V KhadilkarMadhuri HegdePublished in: Neurology. Genetics (2023)
gene is a practical and cost-effective option with increased precision for accurate diagnosis of FSHD types 1 and 2.