title: Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family.
abstract: We report a family in which the father had central core disease and his son had congenital neuromuscular disease with uniform type 1 fibers. This is the first report of such a combination. Although they had no recognized mutation in the ryanodine receptor gene, it is highly likely that the son also had central core disease but without core structures. The absence of cores may be due to the muscle sample or the young age of the patient since core structures have been reported to increase with age. Although the prevalence of core structures in individual muscles is unknown, there is a possibility of sampling error. In some patients, congenital neuromuscular disease with uniform type 1 fibers is closely related to or identical with central core disease.
authors.affiliation: Department of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Handicapped Children, Japan. so46600@mail.pref.niigata.jp
authors.forename: M
authors.initials: M
authors.lastname: Tojo
authors.forename: M
authors.initials: M
authors.lastname: Ozawa
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000328:Adult; D005192:Family Health; D005220:Fathers; D006801:Humans; D007223:Infant; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D020512:Myopathy, Central Core / Q000235:genetics / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel