COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis-Reference-Cited by-同舟云学术

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis

Published:2016 Issue: Volume: Page:105-109
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Bursle C.,Narendra A.,Chuk R.,Cardinal J.,Justo R.,Lewis B.,Coman D.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_13

Reference13 articles.

1. Baertling F, Haak T, Rodenburg R et al (2015) MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. Neurogenetics 16:237–240

2. Carroll C, Isohanni P, Poyhonen R et al (2013) Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J Med Genet 50:151–159

3. Distelmaier F, Haack T, Catarino C et al (2015) MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy. Neurogenetics 16:319–326

4. Emma F1, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27(4):539–550

5. Galmiche L, Serre V, Beinat M et al (2011) Exome sequencing identifies MRPL# mutation in mitochondrial cardiomyopathy. Hum Mutat 32:1225–1231

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