Fig. 2.
A) Southern blot analysis of total DNA obtained from the last muscle biopsy (age 12) of the patient (P) and two age-matched control muscle samples (C1 and C2), showed severe depletion of mtDNA. Probes for mtDNA and the nuclear DNA (nDNA) encoded 18 S rRNA genes have been used. B) Western blot analysis showed normal protein levels of COX II at age 12. Ratios of the mtDNA-encoded COX II relative to the nDNA-encoded ATPase V are indicated.