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Table 1 Clinical phenotypes of patients presenting CoQ10-dependent enzymatic deficiency associated with MRC defect

From: Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

Patient Tissue Sex Age at biopsy Age of onset Heredity Familial history Neurological symptoms Muscular symptoms Other symptoms Muscle histology Enzymology Diagnosis or molecular analyses
Patients with molecular diagnosis
P01a Fibroblasts M D1 Neonatal Recessive Affected brother    Neonatal polyvisceral failure Not done Cx IV deficiency; segments II + III and G3P + III reduction COQ2: homozygous mutation (c.437G > A; p.Ser146Asn)
P02 Muscle M 54y 25y Sporadic No Brain MRI: mild atrophy and lacunar strokes CPEO T2DM, hepatic steatosis, dyslipidemia RRF (5–10 %) and Cox-fibers Cxes I, II, IV and V deficiency; segments I + III and II + III reduction Large-scale deletion of mtDNA
P03a Fibroblasts M D1 Neonatal de novo No Hypotonia, epilepsy and diffuse brain lesions   Neonatal polyvisceral failure: respiratory distress, hepatic failure, hypertrophic CMP, lactic acidosis ++ Not done Cxes II and III deficiency; segments II + III and G3P + III reduction MT-CYB: heteroplasmic mtDNA mutation (m.15635T > C; p.Ser297Pro)
P04a Fibroblasts M 15y 11y Recessive No Ataxic sensory axonal neuropathy CPEO   RRF and Cox-fibers (40 %) Cxes I, II, III and IV deficiency; segments II + III and G3P + III reduction SANDO with multiple mtDNA deletions and homozygous mutation in POLG: (c.911T > G; p.Leu304Arg)
P05 Muscle F 54y 45y Recessive No Ataxic sensory axonal neuropathy CPEO   Lipid accumulation, RRF and Cox-fibers (20 %) Cxes I, II, III, IV and V deficiency; segments I + III and II + III reduction SANDO with multiple mtDNA deletions and compound heterozygous mutations in POLG: (c.752C > T/c.2452G > A; p.Thr251Ile/p.Gly848Ser)
P06a Fibroblasts M D1 Neonatal Recessive No Encephalopathy and hypotonia   Severe lactic acidosis, methylmalonic aciduria Not done Cxes II, III and IV deficiency; segments II + III and G3P + III reduction SUCLG1: compound heterozygous mutations c.97 + 3G > C/c.509C > G (p.Pro170Arg)
P07 Muscle F 18y 4y Recessive Blindness in paternal family   Bilateral ptosis, proximal myopathy, dysphonia, dysphagia, exercice intolerance Retinitis pigmentosa, cyclic vomiting, hyperCPKemia Lipid accumulation Cxes I and III deficiency; segments I + III and II + III reduction MADD with mutations in ETFDH
P08 Muscle F 4 m 4 m Recessive Affected sister Encephalopathy with refractory migrating partial seizures    Lipid accumulation Cx I, II, III and IV deficiency; segments I + III and II + III reduction Malignant migrating partial seizures with compound heterozygous mutations in TBC1D24: (c.468C > A/c.686C > T; p.Cys156X/p.Phe229Ser)
P09 Fibroblasts M D1 Neonatal Recessive No Hypotonia   Hypertrophic CMP, dysmorphic, hepatic cytolysis, hypospadia Glycogenic accumulation Cxes II, III, IV and V deficiency; segments II + III and G3P + III reduction CDG syndrome type Iq : homozygous mutation in SRD5A3 : (c.620T > G; p.Met207Arg)
P10a Fibroblasts M 3 m Neonatal de novo No Hypotonia, epilepsy, dysphagia   Dilated CMP, aortic dilatation Glycogenic accumulation Cxes III and IV deficiency; segments II + III and G3P + III reduction 1p36 deletion syndrome
Patients with no molecular diagnosis
P11 Muscle M 76y Adult ? No Cerebellar ataxia    2 RRF and Cox- fibers (20-30 %) Cx IV deficiency; segments I + III and II + III reduction Multiple mtDNA deletions
P12a Fibroblasts F 7 m 6 m ? No Leigh syndrome    Not done Cx II deficiency; segments II + III and G3P + III reduction mtDNA depletion, absence of mtDNA and POLG, SUCLA2, TK2 mutation
P13a Muscle F 41y Childhood Recessive Consanguinity Spastic tetraparesis, chorea, mental retardation Myopathy Glaucoma, cataract, lactic acidosis RRF ++  Cx I deficiency; segments I + III and II + III reduction Absence of mtDNA and POLG, OPA1, OPA3 mutation
P14 Muscle F 33y 6 m ? No Epilepsy, spastic diplegia, dystonia, dyskinesia, tremor    1 Cox-fiber Cxes III and V deficiency; segments I + III and II + III reduction Absence of mtDNA and POLG, TTC19, DYT5 mutation
P15 Muscle F 28 y Childhood Recessive Affected siblings Encephalopathy, mental retardation    Normal Cxes II, III and V deficiency; segments I + III and II + III reduction Absence of mtDNA mutation
P16 Fibroblasts M 9y Infancy ? No Psychomotor retardation, behavior disorders, dystonia, dyspraxia and basal ganglia involvement at brain MRI (Leigh)    Normal Cxes II and III deficiency; segments II + III and G3P + III reduction Absence of mtDNA mutation
P17 Fibroblasts F D3 D2 ? No    Unexplained severe respiratory failure Normal Cxes II, III deficiency; segments II + III and G3P + III reduction Absence of mtDNA mutation
P18 Fibroblasts M 2y D18 ? No Encephalopathy with refractory epilepsy   Microcephaly Normal Cxes III and IV deficiency; segments II + III and G3P + III reduction Absence of mtDNA mutation
  1. M male, F female, D day, m month, y year, CPK Creatine PhosphoKinase, CPEO Chronic Progressive External Ophthalmoplegia, T2DM Type 2 Diabetes Mellitus, CMP CardioMyoPathy, RRF Ragged Red Fibers, Cox cytochrome c oxydase, cx complex, mtDNA mitochondrial DNA, SANDO Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia, MADD Multiple Acyl-CoA Dehydrogenation Deficiency, CDG Carbohydrate-Deficient Glycoprotein
  2. aPatient deceased