title: Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.
abstract: Central core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor                  type 1 gene. The clinical phenotype of the disease is highly variable. We report a Chinese pedigree with central core disease confirmed by the gene sequencing. All 3 patients in the family presented with mild proximal limb weakness. The serum level of creatine kinase was normal, and electromyography suggested myogenic changes. The histologic analysis of muscle biopsy showed identical central core lesions in almost all of the muscle fibers in the index case. Exon 90-106 in the C-terminal domain of the ryanodine receptor type 1 gene was amplified using polymerase chain reaction. One heterozygous missense mutation G14678A (Arg4893Gln) in exon 102 was identified in all 3 patients. This is the first report of a familial case of central core disease confirmed by molecular study in mainland China.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, PR China.
authors.forename: Xingzhi
authors.initials: X
authors.lastname: Chang
authors.forename: Yiwen
authors.initials: Y
authors.lastname: Jin
authors.forename: Haijuan
authors.initials: H
authors.lastname: Zhao
authors.forename: Qionghui
authors.initials: Q
authors.lastname: Huang
authors.forename: Jingmin
authors.initials: J
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.forename: Ying
authors.initials: Y
authors.lastname: Han
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D020512:Myopathy, Central Core / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel