PANEL NMG4 DEFECTOS DE LA CADENA RESPIRATORIA MITOCONDRIAL ASOCIADOS A GENES NUCLEARES GENES QUE ACAD9 C20ORF7 C8ORF38 FOXRED1 NDUFA1 NDUFA2 NDUFA3 NDUFA4 NDUFA4L2 NDUFA5 NDUFA9 NDUFA10 NDUFA11 RS2 NDUFA13 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFB1 NDUFB3 NDUFB2 NDUFB4 NDUFB5 NDUFB6 NDUFB7 NDUFB8 NDUFB9 NDUFB10 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NUBPL GENES QUE SDHA SDHB SDHC SDHD SDHAF1 SDHAF2 GENES QUE BCS1L UQCRQ UQCRB UQCR10 UQCR11 UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRHL TTC19 GENES QUE COX10 COX11 CODIFICAN PARA EL COMPLEJO I MITOCONDRIAL ACAD9 DEFICIENCY MITOCHONDRIAL COMPLEX 1 DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NAP NAP NAP NAP LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY {THYROID CARCINOMA, HURTHLE CELL} MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY NAP MITOCHONDRIAL COMPLEX I DEFICIENCY NAP NAP NAP NAP NAP NAP ?MITOCHONDRIAL COMPLEX I DEFICIENCY NAP NAP MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY NAP COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF LEIGH SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY NAP MITOCHONDRIAL COMPLEX I DEFICIENCY CODIFICAN PARA EL COMPLEJO II CARDIOMYOPATHY, DILATED, 1GG COWDEN SYNDROME 2 GASTROINTESTINAL STROMAL TUMOR CARCINOID TUMORS, INTESTINAL MITOCHONDRIAL COMPLEX II DEFICIENCY PARAGANGLIOMAS 2 CODIFICAN PARA EL COMPLEJO III MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 NAP NAP NAP MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 NAP NAP NAP MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 CODIFICAN PARA EL COMPLEJO IV ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY NAP COX15 COX16 COX17 COX18 COX19 COX6A1 COX6A2 COX6B1 COX6B2 SCO1 SCO2 SURF1 TACO1 C2ORF64 C12ORF62 FASTKD2 COX6B1 LRPPRC COX4I1 COX4I2 COX4NB CYCS GENES QUE ATPAF1 ATPAF2 TMEM70 ATP5E ATP5D ATP5B ATP5A1 ATP5C1 ATP5O ATP5F1 ATP5G1 ATP5G2 ATP5G3 LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY NAP NAP NAP NAP NAP NAP CYTOCHROME C OXIDASE DEFICIENCY NAP HEPATIC FAILURE, EARLY ONSET, AND NEUROLOGIC DISORDER CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1 LEIGH SYNDROME, DUE TO COX DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY CYTOCHROME C OXIDASE DEFICIENCY LEIGH SYNDROME, FRENCH-CANADIAN TYPE NAP EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS NAP THROMBOCYTOPENIA 4 CODIFICAN PARA EL COMPLEJO V NAP MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 NAP NAP ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 NAP NAP NAP NAP NAP NAP GENES QUE CODIFICAN PARA LA PIRUVATO DESHIDROGENASA DLD PDHA1 DLAT PDHX PDHB PDHA2 PDP1 PDP2 LIAS DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PYRUVATE DEHYDROGENASE E2 DEFICIENCY LACTICACIDEMIA DUE TO PDX1 DEFICIENCY PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY NAP PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY NAP PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY GENES ASOCIADOS A DEFICIENCIAS PRIMARIAS DE COENZYMA Q10 COQ2 COQ3 COQ4 COQ5 PDSS2 PDSS1 CABC1 COQ9 COQ10A COQ10B COQ7 COQ6 COQ4 COQ10D1 (COENZYME Q10 DEFICIENCY, PRIMARY, 1) NAP NAP NAP COQ10D3 COQ10D2 COQ10D4 COQ10D5 NAP NAP NAP COQ10D6 COQ10DX GENES ASOCIADOS A DEPLECIÓN DE ADN MITOCONDRIAL TYMP TK2 DGUOK POLG SUCLA2 MPV17 MTDPS1 (MITOCHONDRIAL DNA DEPLETION SYNDROME-1) MTDPS2 MTDPS3 MTDPS4A MTDPS4B MTDPS5 MTDPS6 C10ORF2 RRM2B SUCLG1 AGK POLG2 SLC25A4 FBXL4 MGME1 MTDPS7 MTDPS8A MTDPS8B MTDPS9 MTDPS10 PEOA4 (PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4) MTDPS12 MTDPS13 MTDPS11 GENES ASOCIADOS A DEFICIENCIA COMBINADA DE FOSFORILACIÓN OXIDATIVA GFM1 MRPS16 TSFM TUFM MRPS22 AIFM1 C12ORF65 AARS2 GFER FARS2 MRPL3 MRPL44 ELAC2 MTFMT PNPT1 EARS2 RMND1 MTO1 LYRM4 CRIF1 OTROS COXPD1 COXPD2 COXPD3 COXPD4 COXPD5 COXPD6 COXPD7 COXPD8 COXPDX COXPD14 COXPD9 COXPD16 COXPD17 COXPD15 COXPD13 COXPD12 COXPD11 COXPD10 COXPDX COXPDY ISCU YARS2 TAZ PUS1 SLC25A3 DNA2 LETM1 DNM1L NFU1 BOLA3 IBA57 ADCK1 ADCK2 ADCK4 ADCK5 MIOPATIA MITOCONDRIAL MIOPATIA MITOCONDRIAL MIOPATIA MITOCONDRIAL MIOPATIA MITOCONDRIAL MIOPATIA MITOCONDRIAL: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY ADULT-ONSET INDIVIDUALS WITH A FORM OF MITOCHONDRIAL MYOPATHY FEATURING INSTABILITY OF MUSCLE MTDNA CRUCIAL FOR THE MAINTENANCE OF MITOCHONDRIAL TUBULAR NETWORKS AND FOR THE ASSEMBLY OF THE SUPERCOMPLEXES OF THE RESPIRATORY CHAIN.FISSION REQUIRED FOR THE MAINTENANCE OF THE TUBULAR SHAPE AND DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 NAP NAP NAP NAP OTRAS CONDICIONES QUE PUEDEN SOLAPARSE CON UNA DEFICIENCIA DE OXPHOS UPB1 NAT8L DARS2 ADSL DPYD DPYS TPK1 RPIA SERAC1 SLC19A3 GATM GAMT SLC6A8 DEFICIENCIA DE BETA-UREIDOPROPIONASA DEFICIENCIA DE N-ACETILASPARTATO LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION ADENYLOSUCCINASE DEFICIENCY DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DIHYDROPYRIMIDINURIA THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2) CEREBRAL CREATINE DEFICIENCY SYNDROME 3 CEREBRAL CREATINE DEFICIENCY SYNDROME 2 CEREBRAL CREATINE DEFICIENCY SYNDROME Nuevos genes asociados a defectos en la función mitocondrial MRPL3 Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. MRPL44 A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Mutation in PNPT1 impairs RNA import into mitochondria and causes respiratory-chain deficiency ELAC2 MTFMT PNPT1 EARS2 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. RMND1 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation MTO1 Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. MICU1 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling PET100 A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome OPA1 VARS2 Regulate mitochondrial fusion TARS2 ETHE1 VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies Encephalopathy, ethylmalonic TRMU GARS FLAD1 Use of WES to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies PTCD1 CHCHD10 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement SPG7 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.