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Article

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

American journal of medical genetics. Part A - 1 Jun 2015

Mordaunt Dylan A, Jolley Alexandra, Balasubramaniam Shanti, Thorburn David R, Mountford Hayley S, Compton Alison G, Nicholl Jillian, Manton Nicholas, Clark Damian, Bratkovic Drago, Friend Kathryn, Yu Sui

Abstract excerpt

Isolated mitochondrial respiratory chain complex III deficiency has been described in a heterogeneous group of clinical presentations in children and adults. It has been associated with mutations in MT-CYB, the only mitochondrial DNA encoded subunit, as well as in nine nuclear genes described thus far: BCS1L, TTC19, UQCRB, UQCRQ, UQCRC2, CYC1, UQCC2, LYRM7, and UQCC3. BCS1L, TTC19, UQCC2, LYRM7, and UQCC3 are...

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Source

Identifiers

PMID: 25899669
DOI: 10.1002/ajmg.a.36968

Genes

LYRM7
UQCC2
UQCC3
CYC1
UQCRB
UQCRC2
UQCRQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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