This included a high level of PDE/γATP, associated with an increased phospholipid turnover, and an elevated alkaline pHw, reflecting an increased intracellular pH or increased interstitial Pi,tot pool,13 both indices pointing towards a disturbance at the level of the sarcolemma, and found earlier in DMD,13, 14 Becker muscular dystrophy,16 FSHD,18 and GNE myopathy.21 This evidence concerns the gene ALDH7A1 and myopathy.