title: Congenital myopathy with focal loss of cross-striations revisited.
abstract: In 1977 Wijngaarden et al. reported a Dutch family with a congenital myopathy characterized by external ophthalmoplegia and a remarkable histological feature, focal loss of cross-striations. A small number of other families with similar clinical and pathological features led to the consideration of this congenital myopathy as a distinct entity. Here we present more than 30years of follow-up from the Dutch family and report recently identified compound heterozygous mutations in the skeletal muscle ryanodine receptor (RYR1) gene, c.10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement.
authors.affiliation: Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands. n.voermans@neuro.umcn.nl
authors.forename: N C
authors.initials: NC
authors.lastname: Voermans
authors.forename: H
authors.initials: H
authors.lastname: Jungbluth
authors.forename: E
authors.initials: E
authors.lastname: Aronica
authors.forename: N
authors.initials: N
authors.lastname: Monnier
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: M
authors.initials: M
authors.lastname: Swash
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000328:Adult; D001706:Biopsy; D015897:Comorbidity; D015785:Eye Diseases, Hereditary / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D005260:Female; D005355:Fibrosis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009224:Myotonia Congenita / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D009426:Netherlands; D015835:Ocular Motility Disorders / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel