Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

Neuromuscular Disorders

Volumn 21, Issue 11, 2011, Pages 803-808

  Mayr, Johannes A ^a   Zimmermann, Franz A ^a   Horváth, Rita ^b,c   Schneider, Hans Christian ^d   Schoser, Benedikt ^e   Holinski Feder, Elke ^b   Czermin, Birgit ^b   Freisinger, Peter ^d,f   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b Medical Genetic Center   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d Department of Paediatrics   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

ATP synthesis; Cardiomyopathy; Mitochondrial energy metabolism; Muscular hypotonia; Mutually exclusive alternative splicing

Indexed keywords

ADENINE; GUANINE; ISOPROTEIN; MITOCHONDRIAL PROTEIN; PHOSPHATE TRANSPORTER;

5' UNTRANSLATED REGION; ADOLESCENT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CHILD; CHILD DEATH; DISEASE SEVERITY; ENZYME ACTIVITY; EXERCISE TOLERANCE; EXON; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC TRANSCRIPTION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INTRON; LACTIC ACIDOSIS; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NEWBORN; NEWBORN PERIOD; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; RESPIRATORY CHAIN; SKELETAL MUSCLE; SLC25A3 GENE; TISSUE SPECIFICITY;

ADOLESCENT; ALTERNATIVE SPLICING; CARDIOMYOPATHIES; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INTRONS; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; PHOSPHATE TRANSPORT PROTEINS;

EID: 82455162377     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.06.005     Document Type: Article

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