Table 1.

Clinical and laboratory features in patients with myopathic form of CoQ10 deficiency

FeaturePatient 1Patient 2Patient 1, Ogasahara1Patient 2, Ogasahara1Sobreira5Boitier6
ND = no data.
Walking late30 mo26 mo
Disease onset12 y15 y3 y3 yBefore 2 y2 y
Exercise intolerance+++++
MyoglobinuriaRecurrentSporadicSporadicRecurrentRecurrent
Muscle weaknessMild axial/proximalMarked axial/proximalAxial/proximalAxial/proximalPalpebral ptosis axial/proximalPalpebral ptosis Proximal
Cerebellar symptomsAtaxia/dysarthria/tremorAtaxia/dysarthria/ tremor
Epilepsy+— (EEG +)++
Additional featuresLearning dysabilityLearning dysabilityTilted optic disc, migraine, cerebral atrophyLanguage delay, mild retinitis, cerebellar atrophy
Creatine kinase level (maximum value)37 ×29 ×20 ×20 ×4 ×23 ×
Serum lactic acid at rest (maximum value)12 mM/1 (normal < 2)11.2 mM/l (normal < 2)10 mM/l10 mM/l2.56 mM/l (normal < 1)Elevated (also in CSF)
Ragged-red fibers/lipids++++++
Muscle CoQ10 level, %39 (homogenate)35 (homogenate)3.7 (mitochondria)5.4 (mitochondria)8 (homogenate)16 (homogenate), 6 (mitochondria)
Skin/serum CoQ10 levelNormalNormalNormalNormalNDND
Respiratory chain
I + III, % of normal504922ND4113
II + III, % of normal394514ND144
Response to therapyRecoveryRecoveryImprovementImprovementImprovementMuscle improvement, CNS unchanged