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

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… CONTINUE READING