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Article

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Archives of neurology - 1 Sept 2007

Meulemans Ann, De Paepe Boel, De Bleecker Jan, Smet Joél, Lissens Willy, Van Coster Rudy, De Meirleir Linda, Seneca Sara

Abstract excerpt

BACKGROUND: Defects in the oxidative phosphorylation system can cause a broad spectrum of clinical symptoms ranging from an isolated myopathy to a multisystemic disorder. OBJECTIVE: To study and identify the underlying molecular defect in a patient with limb-girdle myopathy. DESIGN: Biochemical, histochemical, and immunocytochemical analyses were performed in combination with polymerase chain...

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Share to Blotting, Southern
Share to Electron Transport Complex IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Oxidative Phosphorylation

Share to Polymorphism, Single-Stranded Conformational

Share to RNA, Transfer

Source

Identifiers

PMID: 17846276
DOI: 10.1001/archneur.64.9.1339

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