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

Journal of Medical Genetics

Volumn 50, Issue 3, 2013, Pages 151-159

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

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 1; CYTOCHROME C OXIDASE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RIBOSOME PROTEIN MRPL44; RIBOSOME PROTEIN; RNA 16S; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CYTOCHROME C OXIDASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; HEART MUSCLE; HETEROZYGOTE; HUMAN; INFANT DISEASE; MISSENSE MUTATION; MITOCHONDRIAL INFANTILE CARDIOMYOPATHY; ONSET AGE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN FUNCTION; RESPIRATORY CHAIN; RIBOSOME; RNA STABILITY; SKELETAL MUSCLE;

ADOLESCENT; AMINO ACID SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CYCLOOXYGENASE 1; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; EXOME; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOCARDIUM; PEDIGREE; RIBOSOMAL PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84874934557     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101375     Document Type: Article

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