Table 2 31P‐MRS data from occipital lobes and calf muscle of the proband (case IV‐4) harbouring the 13042G→A/ND5 mtDNA mutation.
Occipital lobes | Calf muscle | ||||||
---|---|---|---|---|---|---|---|
[PCr] (mM) | [Pi] (mM) | [ADP] (μM) | PP (mM−1) | PCr (mM) rest | Pi (mM) rest | Post‐exercise TC PCr (s) | |
Case (IV‐4) | 3.79* | 1.69* | 37* | 49* | 27.2 | 4.16 | 55* |
Control | |||||||
(mean (SD)) | 4.57 (0.19) | 1.36 (0.13) | 27 (2) | 81 (5) | 27.9 (1.12) | 4.02 (0.56) | 19 (4) |
(range) | (4.16 to 4.78) | (1.11 to 1.50) | (24 to 32) | (74 to 90) | (25.5 to 29.2) | (3.12 to 4.80) | (11 to 27) |
*Outside the normal range.
MRS, magnetic resonance spectroscopy; PCr, phosphocreatine; Pi, inorganic phosphate; PP, phosphorylation potential ( = [ATP]/[ADP]×[Pi]); TC PCr, time constant of phosphocreatine resynthesis rate after exercise.