Neuroradiological and molecular features in our proband. A. Brain MRI showed bilateral symmetric hyperintense lesions on T2-weighted images in the head of caudate, putamen (top left), thalami (top right) and ventral mesencephalum (bottom left); these lesions were hypointense in T1-weighted images (bottom right). B. PCR-RFLP analysis of m.14459G > A mutation. The transition m.14459G > A creates a restriction site for endonuclease MaeIII in mutated amplicons obtained using a modified primer set previously described (FOR14430*-RC14710) producing two fragments of 251 and 29 base pairs (the latter is not visible on the agarose gel) while wild type molecules remain uncut. C. PCR-RFLP analysis of m.14792C > G variant. The variant m.14792C > G is recognized by restriction endonuclease HinfI which cuts mutated PCR-amplified fragments (encompassing 14400-14963 nucleotides) producing molecules of 392 and 171 base pairs. Control samples are from healthy unrelated independent subjects.