Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution--a preliminary report.

Adult-onset, autosomal dominant myopathy with limb-girdle distribution in a Chinese family is reported. Nine members were affected with characteristic proximal weakness and pelvifemoral-preceded scapulohumeral involvement. The facial, extraocular and bulbar muscles were spared. Rimmed vacuoles were the most obvious characteristics in the myopathologic study of the biopsy specimens from four patients. In a review of the previous literature, we found three reported families with clinical and myopathologic features identical to ours, and these families are viewed as a distinct subgroup of myopathy.