Abstract
Typical central core disease (CCD) is characterized pathologically by the presence of a ``core'' which is devoid of oxidative enzyme activity in the central region of myofibers, and is typically accompanied by a strong type 1 fiber predominance (> 99%), referred to as type 1 fiber uniformity. Congenital neuromuscular disease with uniform type 1 fibers (CNMDU1) is characterized pathologically by the presence of essentially identical type 1 fiber uniformity but without the abnormal structural changes in muscle fibers.
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