Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.
Two brother are described with a congenital myopathy, including weakness of the external ocular muscles, whose biopsies showed multicores and focal loss of cross-striations, with failure of fibre type differentiation. In one patient changes in distribution and size of these core-like structures were observed in a second biopsy taken 5 years later. This family, together with others previously reported, may represent a genetically distinct subgroup of congenital multicore disease.
D000328:Adult; D001706:Biopsy; D002648:Child; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology*