G. Nimmo, A. Pandey, C. Marshall, S. Venkatesh, L. Hazrati, S. Ahmed, J. Cameron, P. Ray, C. Suzuki, G. Yoon

G. Nimmo, A. Pandey, C. Marshall, S. Venkatesh, L. Hazrati, S. Ahmed, J. Cameron, P. Ray, C. Suzuki, G. Yoon September 14, 2017

LONP1 encodes the mitochondrial Lon protease, an ATP-dependent protease important for regulation of mitochondrial metabolism and response to free radical damage, and the maintenance and repair of mitochondrial DNA. Bi-allelic mutations in LONP1 have been associated with cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome.… Read More...

H. Reyngoudt, S. Turk, P. Carlier September 14, 2017

It has long been established that skeletal muscle pH of Duchenne patients is systematically measured as abnormally alkaline by 31P nuclear magnetic resonance spectroscopy (NMRS). This alkaline phosphate pool may arise from an expanded interstitial space, possibly in connection with fibrotic changes, or from the myocytic cytoplasm, reflecting ionic regulation disturbances.… Read More...

M. Inoue, A. Iida, S. Noguchi, I. Nonaka, I. Nishino September 14, 2017

Myofibrillar myopathy (MFM) is genetically and phenotypically heterogeneous group of skeletal and cardiac muscle disorders, which is pathologically characterized by focal disorganization of myofibrils and presence of aggregates of myofibrillar protein. However, the molecular pathomechanism is largely unknown. We performed comprehensive genome analysis to elucidate the pathogenesis of MFM.… Read More...

A. Martins-Bach, E. Araujo, B. Matot, Y. Fromes, P. Baudin, I. Richard, P. Carlier September 14, 2017

The C57BL/10-mdx mouse (mdx) is the most frequently studied animal model of Duchenne muscle dystrophy (DMD), where the absence of dystrophin in skeletal muscle leads to inflammation and necrosis in the histological analysis. Nevertheless, mdx mice have an overall benign phenotype, with high rates of muscle regeneration and moderate fibrosis.… Read More...

C. Bloetzer, D. Jacquier, A. Klein, A. Ivanyuk, N. Garcia Segarra September 14, 2017

Duchenne muscular dystrophy (DMD) is an X-linked progressive myopathy due to mutations in the dystrophin gene, affecting one in every 3’600–10’000 live male births. Corticosteroids are the gold standard for the treatment of DMD, as they prolonged the ambulation, diminish the need of surgery for scoliosis, and slow the progress of respiratory insufficiency and possibly cardiac dysfunction.… Read More...

A. Hirasawa, A. Ishiyama, T. Nakayama, S. Kuru, E. Takeshita, Y. Shimizu-Motohashi, H. Komaki, I. Nishino, M. Sasaki September 14, 2017

The signal of pixels on muscle magnetic resonance imaging (MRI) was considered to be proportional to the ratio of muscle to fat; thus, we previously developed the excel based auto-calculation program of muscle impairment ratio from absolute CT value and we applied this method to MR images.… Read More...

M. Hooijmans, N. Doorenweerd, C. Baligand, J. Verschuuren, I. Ronen, A. Webb, E. Niks, H. Kan September 14, 2017

Quantitative magnetic resonance imaging (MRI) and spectroscopy (MRS) of muscle are becoming increasingly important as potential outcome measures for clinical trials in Duchenne muscular dystrophy (DMD), where fat fraction (FF) and water T2 are often used. While FF correlates well with function, it reflects the replacement of muscle by fat and therefore does not represent the muscle tissue itself.… Read More...

Andoird App
Loading...