Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

(2010) Andrew H. Crosby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

(2010) Paulien Smits et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ribosomal protein L3 functions as a ‘rocker switch’ to aid in coordinating of large subunit-associated functions in eukaryotes and Archaea

(2008) Arturas Meskauskas et al.   NUCLEIC ACIDS RESEARCH