TY  - JOUR
T1  - MPv17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial dna deletions
AU  - Garone C, Rubio J, Calvo SE, et al
Y1  - 2012/12/01
N1  - 10.1001/archneurol.2012.405
JO  - Archives of Neurology
SP  - 1648
EP  - 1651
VL  - 69
IS  - 12
N2  - Objective 
                  To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA).Design 
                  Case report.Setting 
                  University hospitals.Patient 
                  A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, exercise intolerance, steatohepatopathy, depression, parkinsonism, and gastrointestinal dysmotility.Results 
                  Skeletal muscle biopsy revealed ragged-red and cytochrome- c oxidase–deficient fibers, and Southern blot analysis showed multiple mtDNA deletions. No deletions were detected in fibroblasts, and the results of quantitative polymerase chain reaction showed that the amount of mtDNA was normal in both muscle and fibroblasts. Exome sequencing using a mitochondrial library revealed compound heterozygous MPV17 mutations (p.LysMet88-89MetLeu and p.Leu143*), a novel cause of mtDNA multiple deletions.Conclusions 
                  In addition to causing juvenile-onset disorders with mtDNA depletion, MPV17 mutations can cause adult-onset multisystemic disease with multiple mtDNA deletions.
SN  - 0003-9942
M3  - doi: 10.1001/archneurol.2012.405
UR  - http://dx.doi.org/10.1001/archneurol.2012.405
ER  -