1 | ATP2A2, CLPB, MGCA7
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| CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder.
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| 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.
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| Am J Hum Genet 96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. 2015
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2 | CLPB, MGCA7
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| Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
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| 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.
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| J Med Genet Med Genet. 2015 Feb 3. pii: jmedgenet-2014-102952. doi: 10.1136/jmedgenet-2014-102952. [Epub ahead of print] 2015
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3 | CLPB, MGCA7
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| CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria.
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| Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E.
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| Am J Hum Genet 96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. 2015
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4 | CLPB, MGCA7
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| Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
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| Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S.
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| J Inherit Metab Dis Inherit Metab Dis. 2015 Jan 18. [Epub ahead of print] 2015
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