Pleocore disease. Multi-minicore disease and focal loss of cross striations.
We report clinical and morphological data on seven patients with a congenital myopathy as well as data concerning five parents. Classical myopathies such as rod disease, centronuclear myopathy or central core disease could be ruled out. Structural abnormalities of intracellular organelles or particulate inclusions were rare and insignificant. The most prominent and constant features were minicores and focal loss of cross striations, associated with a prevalence of type 1 fibres, increasing with the age at time of biopsy. A carrier state could not be defined in the five examined parents neither on clinical nor on morphological grounds. Although our group of patients could not clinically be distinguished from other congenital myopathies, the combination of the lesions allow their individualization as a subgroup of multicore or minicore disease under the already proposed denomination of pleocore disease [Martin and Busch, abstract in Zentralbl Allg Pathol 124:156 (1980)].
D000293:Adolescent; D000328:Adult; D002452:Cell Count; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000151:congenital / Q000473:pathology*