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Table 1 Clinical and laboratory data in 13 patients with complex I deficiency

From: Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

Patient12345678910111213
mtDNA geneMT-ND1MT-ND3MT-ND5
mutationm. 3697 G > Am. 3946 G > Am. 10158 T > Cm. 12706 T > Cm. 13042G > Am. 13046 T > Cm. 13091 T > Cm. 13513G > A
 muscle mtDNA heteroplasmy [%] 93np539583967061674897npnp
 fibroblasts mtDNA heteroplasmy [%] 8179np85np6543np65404npnp
 blood mtDNA heteroplasmy [%] 9396np903962745844352164
 hair follicles mtDNA heteroplasmy [%] 93npnp94np904412np668694
 urinary sediment mtDNA heteroplasmy [%] 96npnpnp47897152np81927480
 buccal smear mtDNA heteroplasmy [%] 93npnp92np933430np5568571
median for all tissues93885392479244306552771568
age at onset (week, months, years)1 w1 w9 y4 m17 y6 m12 y10 y1 m6 y10 y10 y5 m
first symptomhypotonyhypotonystroke-like episodehypotonyWernicke aphasiahypotonyoptic neuuropathymigrainehypotonyoptic neuropathystroke-like episodehearing lossnystagmus
failure to thrive+++++
initial hypotony/ later spasticity+/++/++/++/+−/−+/+−/−−/−+/+−/−−/−+/−+/−
delayed motor development++++++  
cerebellar symptoms+++++++++
strabismus+++++  +++
epilepsy+++++++++
migraine  ++++++
optic atrophy  ++++++
ptosis  ++++++
CPEO +++++
visual impairment++  + +/−++++
hearing loss+ ++++++++
peripheral neuropathy  +  + 
mental insufficiency++++ +++
psychiatric disturbances  + ++ ++ 
present age (years)died at 7died at 1.831died at 1.3died at 426.51731died at 3.320.525226.5
creatine kinase [controls < 2.5 ukat/l]1–2.40.810.662–3.8np1–1901–1.70.6np0.6–21.5–142–10
blood-lactate [controls < 2.3 mmol/l]2–63–62.7–4.43–73–82.8–51.5–131.2–2.62–3.48.62–52–52.4–4
CSF-lactate [controls < 2.1 mmol/l]3475.64.53.94.34.23.6146.2np4.3
age at MRI (months, years)2 y7 m14 y 36 y20 m17 y32 y34 m9 y25y18 y3 y
MRI – bilateral deep gray matter lesionsa++++++++++
MRI –stroke-like lesionsb+++++++
MRI –periventricular atrophy+++++++++++
  1. Abbreviations: CPEO chronic progressive external ophthalmoplegia, PM psychomotor, CSF cerebrospinal fluid (CSF lactate in P10 analysed at stroke-like episode); np - not performed
  2. aCompatible with Leigh syndrome (see Fig. 1), bcompatible with MELAS syndrome (see Fig. 1)