Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

Journal of Medical Genetics

Volumn 49, Issue 2, 2012, Pages 146-150

  Echaniz Laguna, Andoni ^a,b   Chassagne, Maïté ^c   Ceresuela, Jennifer ^c   Rouvet, Isabelle ^c   Padet, Sylvie ^c   Acquaviva, Cécile ^c   Nataf, Serge ^c   Vinzio, Stéphane ^a   Bozon, Dominique ^c   de Camaret, Bénédicte Mousson ^c  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ADENINE NUCLEOTIDE TRANSLOCASE 1; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL PROLIFERATION; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADENINE NUCLEOTIDE TRANSLOCATOR 3; ADULT; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CELLS, CULTURED; DNA-DIRECTED DNA POLYMERASE; EXONS; FEMALE; GENE EXPRESSION; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; NEUROIMAGING; PEDIGREE; YOUNG ADULT;

EID: 84855984937     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100504     Document Type: Article

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