MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Neurogenetics

Volumn 16, Issue 4, 2015, Pages 319-323

  Distelmaier, Felix ^a   Haack, Tobias B ^b,c   Catarino, Claudia B ^d   Gallenmüller, Constanze ^d   Rodenburg, Richard J ^e   Strom, Tim M ^b,c   Baertling, Fabian ^a   Meitinger, Thomas ^b,c,f,g   Mayatepek, Ertan ^a   Prokisch, Holger ^b,c   Klopstock, Thomas ^d,f,h  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Germany 3 Munich Cluster for Systems Neurology   (Germany)

^g DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^h GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

Mitochondrial disease; Mitochondrial ribosome; Oxidative phosphorylation; OXPHOS

Indexed keywords

AMINOTRANSFERASE; CARNITINE; LACTIC ACID; PROPRANOLOL; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RIBOSOMAL PROTEIN L44, HUMAN; RIBOSOME PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; GENE; GENE SEQUENCE; HEART MUSCLE BIOPSY; HEMIPLEGIC MIGRAINE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; KIDNEY FAILURE; LIVER DISEASE; MISSENSE MUTATION; MRPL44 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; SYSTEMIC DISEASE; BRAIN; COMPLICATION; GENETICS; PATHOLOGY; PEDIGREE;

ADULT; BRAIN; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; DISEASE PROGRESSION; EXOME; FEMALE; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PEDIGREE; RIBOSOMAL PROTEINS;

EID: 84942194790     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-015-0444-2     Document Type: Article

References (8)

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