Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

Archive ouverte | Le Ber, I. | CCSD

International audience. APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ1...

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry.

Archive ouverte | Semplicini, C. | CCSD

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults

Archive ouverte | Nadjar, Y. | CCSD

International audience. Introduction: Mitochondrial trifunctional protein deficiency (MTPD) is a long-chain fatty acid oxidation disorder characterized by co-existence of rhabdomyolysis episodes and peripheral neuro...