Figure 1

Selective muscle involvement in RYR1-related central core disease (CCD) and multi-minicore disease (MmD). Muscle MRI of the thigh, T1-weighted images. A) A transverse section from the proximal thigh in a 12-year-old patient with central core disease (CCD) due to a dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. There is a distinct pattern of selective involvement characterized by marked increase in signal within the vasti, sartorius (S), and adductor magnus (AM), and relative sparing of the rectus femoris (RF), adductor longus (AL), gracilis (G), and hamstring muscles. B) A transverse section from the proximal thigh in a 17-year-old girl with Multi-minicore disease due to a homozygous recessive RYR1 mutation demonstrating a comparable pattern of selective involvement. * Reprinted from [24] Neurology 2002 Jul 23;59(2):284–7. Jungbluth et al.: Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores.With permission from Lippincott Williams & Wilkins (LWW).