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Auteur Martinez Perea MDC |
Documents disponibles écrits par cet auteur (4)
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Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011The McArdle s disease (GSD V, MIM#232600) is the most common autosomal recessive disorder of glycogen metabolism. There are several mutations in the myophosphorylase gene (PYGM, MIM#608455). There is a clinical heterogeneity, with a wide clinica[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011INTRODUCTION:It has been estimated that more than one person in every 3000 has a serious disabling inherited neuromuscular disorder. There are several scales to measure the stages of motor decline in NMD. Motor Function Measure (MFM) applicable [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Posadas Martinez MM | 2008The mitochondrial DNA point mutation T8993G has been associated with NARP and maternally inherited Leigh syndrome (MILS). Usually there is a correlation between the percentage of mutated mtDNA and clinical severity. Objectives: The aim is to sho[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Ruggiero M ; Andrada L ; Canaveris G | 2008INTRODUCTION: The physicians need to be aware of the NMD and physiological flight conditions. The primary difference between the aircraft and ground is the barometric pressure reduced. Although most healthy travelers can compensate for this hypo[...]