Citations for
1ATP2A2, CLPB, MGCA7
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Ġunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.
Am J Hum Genet 96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. 2015
2CLPB, MGCA7
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Velde CV, Rouleau GA, Drapeau P, Michaud JL.
J Med Genet Med Genet. 2015 Feb 3. pii: jmedgenet-2014-102952. doi: 10.1136/jmedgenet-2014-102952. [Epub ahead of print] 2015
3CLPB, MGCA7
CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria.
Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E.
Am J Hum Genet 96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. 2015
4CLPB, MGCA7
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S.
J Inherit Metab Dis Inherit Metab Dis. 2015 Jan 18. [Epub ahead of print] 2015