Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

Frontiers in Genetics

Volumn 6, Issue JUN, 2015, Pages

  McCormick, Elizabeth M ^a   Kenyon, Lawrence ^b   Falk, Marni J ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

DES; Desmin related myopathy; Mitochondrial disease; Mitochondrial DNA depletion; Whole exome sequencing

Indexed keywords

DESMIN; MITOCHONDRIAL DNA;

ABDOMINAL OBESITY; ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONGENITAL HEART BLOCK; DIZZINESS; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXOME; FAMILY HISTORY; FOLLOW UP; GAIT DISORDER; GASTROINTESTINAL SYMPTOM; GENE DOSAGE; GENE MUTATION; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOOD DISORDER; MUSCLE BIOPSY; MYOPATHY; PERIPHERAL NEUROPATHY; REAL TIME POLYMERASE CHAIN REACTION; SHORT STATURE;

EID: 84940108461     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2015.00199     Document Type: Article

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