Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

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The genetics and pathology of mitochondrial disease.Mitochondrial complex III Rieske Fe-S protein processing and assembly.

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Q37560946-2E209854-5B29-4E93-AE5A-9CB9F2572DB7 Q47290712-36A8E020-9E10-4F1F-A589-22CB3AF78956

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Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

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im April 2015 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у квітні 2015

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Phenotypic variation ofTTC19-d ...... e report and literature review

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Phenotypic variation ofTTC19-d ...... e report and literature review

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Phenotypic variation ofTTC19-d ...... e report and literature review

@en

Phenotypic variation ofTTC19-d ...... e report and literature review

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Phenotypic variation ofTTC19-d ...... e report and literature review

@en

Phenotypic variation ofTTC19-d ...... e report and literature review

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Phenotypic variation of TTC19- ...... e report and literature review

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Alexandra Jolley

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Damian Clark

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Drago Bratkovic

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Dylan A Mordaunt

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Jillian Nicholl

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Kathryn Friend

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Nicholas Manton

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Shanti Balasubramaniam

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Sui Yu

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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Respiratory-chain diseases related to complex III deficiency.

Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.

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1330-1336

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scholarly article

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10.1002/AJMG.A.36968

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English

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167

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Alison Compton

Hayley S. Mountford

David Thorburn

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2015-04-21T00:00:00Z

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25899669

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mitochondrion

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

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P2860

P2860

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921