A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Payam MohasselPomi YunSafoora SyedaAbhinandan BatraAndrew J BradleySandra DonkervoortSoledad MongesJulie S CohenDoris G LeungFrancina MunellCarlos OrtezAngel Sánchez-MontáñezPeter KarachunskiJohn BrandsemaLivija MedneVinay ChaudhryGiorgio TascaA Reghan FoleyBjarne UddAndrew E AraiGlenn A WalterCarsten G BonnemannPublished in: Annals of clinical and translational neurology (2023)
Skeletal muscle ultrasound and muscle MRI reflect the multifocal aggregate formation in muscle in FHL1-related reducing body myopathy and are practical and informative tools that can aid in diagnosis and monitoring of disease progression.