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Article

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Journal of medical genetics - 1 Mar 2013

Carroll Christopher J, Isohanni Pirjo, Pöyhönen Rosanna, Euro Liliya, Richter Uwe, Brilhante Virginia, Götz Alexandra, Lahtinen Taina, Paetau Anders, Pihko Helena, Battersby Brendan J, Tyynismaa Henna, Suomalainen Anu

Abstract excerpt

BACKGROUND: The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULTS: Analysis of respiratory chain enzymes revealed a combined deficiency of complexes I and IV in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23315540
DOI: 10.1136/jmedgenet-2012-101375

Genes

MRPL44

Provenance

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Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.PMID 23315540Read ↗

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.Semantic proximity Read ↗

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.Semantic proximity Read ↗

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Semantic proximity Read ↗

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

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.Semantic proximity Read ↗

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Semantic proximity Read ↗

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.Semantic proximity Read ↗

Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction.Semantic proximity Read ↗

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.Semantic proximity Read ↗

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.Semantic proximity Read ↗

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Semantic proximity Read ↗

A homozygous missense mutation in <i>ERAL1,</i> encoding a mitochondrial rRNA chaperone, causes Perrault syndromeSemantic proximity Read ↗

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