Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy

Archive ouverte | Gebus, O | CCSD

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Archive ouverte | Rudolf, Gabrielle | CCSD

Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected wit...

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Archive ouverte | Montaut, Solveig | CCSD

OBJECTIVE: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogen...