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Table 3 MD genes that appeared more than once in six studies, i.e. the current study and five previous studies [7,8,9,10,11]

From: Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Gene

Disease-causing genes found in

Current study

Number of previous studies

Four

Three

Two

One

TAZ#

v

 

v

  

SCO2

 

v

   

MTFMT

 

v

   

NDUFS7

  

v

  

RRM2B#

 

v

   

MTO1

  

v

  

EARS2

  

v

  

RARS2

  

v

  

C12orf65

  

v

  

PC

   

v

 

FBXL4

  

v

  

COQ4

v

   

v

COQ7

v

   

v

OPA1

v

   

v

SURF1

v

   

v

NDUFV1

   

v

 

TMEM126B

   

v

 

ACAD9

   

v

 

SLC25A4

   

v

 

TRMU

   

v

 

KARS

   

v

 

VARS2

   

v

 

AARS2

   

v

 

GFM1

   

v

 

SERAC1

   

v

 

MFN2

   

v

 

COX10

   

v

 

SLC19A3#

   

v

 
  1. #Absent in MitoCarta 2.0