| http://purl.uniprot.org/citations/15087111 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15087111 | http://www.w3.org/2000/01/rdf-schema#comment | "Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gamma-sarcoglycan encoding gene. This disease is characterized by childhood onset of progressive muscular dystrophy. Because of the clinical presentation, this disorder may be misdiagnosed as a dystrophinopathy. Two males (Patients A and B) from one Turkish family and one male (Patient C) from a Moroccan family had progressive walking disturbances for several years, exercise intolerance, and leg pains. Clinical examination revealed limb-girdle weakness and calf hypertrophy. Serum creatine kinase levels ranged from 1100 to 19000 U/L. The initial findings and course of the disease were less severe in Patient B compared with his brother (Patient A) at the same age. By means of immunohistochemistry on muscle biopsy all patients manifested reduced expression of alpha-, beta-, gamma-, and delta-sarcoglycans. DNA sequence analysis revealed a homozygous splice site mutation in exon 5 (IVS5+2T>C) in the Turkish family. In the patient from the Moroccan family a homozygous nonsense mutation in exon 2 (93G>A;Trp31X) was present. In conclusion, this report describes the clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.pediatrneurol.2003.11.006"xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "Vermeer S."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "Willemsen M.A."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "Verrips A."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "Hamel B.C."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "Ginjaar I.B."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/author | "ter Laak H.J."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/name | "Pediatr Neurol"xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/pages | "291-294"xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/title | "Novel mutations in three patients with LGMD2C with phenotypic differences."xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://purl.uniprot.org/core/volume | "30"xsd:string |
| http://purl.uniprot.org/citations/15087111 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15087111 |
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