Characteristic Muscle Involvement on Magnetic Resonance Imaging in Central Core Disease

ABSTRACT

Central core disease (CCD) is a rare congenital myopathy characterized by central cores on muscle biopsy. We present three familial cases of CCD. The muscle pathology manifested as a predominance of type 1 muscle fibers and highly oxidative fibers with central cores. Muscle MRI showed selective involvement of the sartorius, vastus lateralis, and adductor magnus muscles. We suggest that muscle MRI can be used as an additional tool in the diagnosis of CCD.