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. 2017 Aug 8;7:10. doi: 10.1186/s40945-017-0038-4

Table 2.

Patient characteristics at study recruitment

Patient Sex Age Diagnosisa Primary clinical features Sequence
A M 26 Complex IV deficiency progressive loss of walking ability due to muscle weakness, visual impairment, retinal dystrophy, hearing loss, no decrease in intellectual function Control, Washout, Vibration
B F 3 Complex I & III deficiency non-ambulatory (except when cruising), seizure disorder, hypotonia, developmental delay Vibration, Washout, Control
C M 61 Ragged red fiber disease muscle weakness, pain Control, Washout, Vibration
D F 42 Complex I, IV & V deficiency imbalance, muscle weakness, pain Vibration, Washout, Control
E F 36 SANDO Syndrome (POLG1)b progressive decrease in ambulation due to muscle weakness, fatigue Vibration, Washout, Control
F F 80 MELAS Syndromec muscle weakness, progressive loss of ambulation, no decrease in intellectual function Control, Washout, Vibration
G F 55 mtDNA Deletion Syndromed muscle weakness, fatigue Vibration, Washout, Control

SANDO Sensory ataxic neuropathy, dysarthria, and opthalmoparesis, POLG1 DNA polymerase subunit gamma 1, MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, mtDNA mitochondrial DNA. a each diagnosis was confirmed from analyzed skeletal muscle biopsies, bSANDO Syndrome (POLG1) A467T & C1143G compound heterozygote, cMELAS m.3243A > G, dNovel m.6342–14,004 mtDNA deletion