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

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

(2013) Matthew Henderson et al.   ACTA NEUROPATHOLOGICA

Measuring oxidative phosphorylation in human skin fibroblasts

(2013) Fang Ye et al.   ANALYTICAL BIOCHEMISTRY

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

(2012) K. Y. van Spaendonck-Zwarts et al.   Netherlands Heart Journal

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

(2010) D. Dimmock et al.   CLINICAL CHEMISTRY

A modern approach to the treatment of mitochondrial disease

(2009) Sumit Parikh et al.   Current Treatment Options in Neurology

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION