{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["27(4)"],"submitter":["Park HJ"],"pubmed_abstract":["Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two pati"],"journal":["Journal of Korean medical science"],"pagination":["423-9"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3314856"],"repository":["biostudies-literature"],"pubmed_title":["Heterogeneous characteristics of Korean patients with dysferlinopathy."],"pmcid":["PMC3314856"],"pubmed_authors":["Shin HY","Park HJ","Suh BC","Hong JM","Sunwoo IN","Suh GI","Kim SM","Choi YC"],"additional_accession":[]},"is_claimable":false,"name":"Heterogeneous characteristics of Korean patients with dysferlinopathy.","description":"Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two pati","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Apr","modification":"2025-04-18T18:50:43.315Z","creation":"2019-03-27T00:51:41Z"},"accession":"S-EPMC3314856","cross_references":{"pubmed":["22468107"],"doi":["10.3346/jkms.2012.27.4.423"]}}