DELMONT , Emilien

We report on a series of six patients diagnosed as anti-MAG polyneuropathy treated with rituximab. Nine months after the infusion of rituximab, sensory deficiency considered through the INCAT sensory score was improved in 5 patients and functional disability quantified by the overall neuropathy limitation scale was improved in 3 patients....

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions...

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions...