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Year | Number of Results |
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2013 | 1 |
2015 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (cited) for id: 615395
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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Mol Genet Metab. 2021 Aug;133(4):362-371. doi: 10.1016/j.ymgme.2021.06.001. Epub 2021 Jun 10.
Mol Genet Metab. 2021.
PMID: 34140213
Free PMC article.
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T.
Distelmaier F, et al.
Neurogenetics. 2015 Oct;16(4):319-23. doi: 10.1007/s10048-015-0444-2. Epub 2015 Mar 24.
Neurogenetics. 2015.
PMID: 25797485
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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A.
Carroll CJ, et al.
J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12.
J Med Genet. 2013.
PMID: 23315540
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