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For some mutations (in total 25, distributed over the whole ligand binding domain) either a complete (CAIS) as well as a partial (PAIS) phenotype (13 cases) or a CAIS and a PAIS and a mild (MAIS) phenotype (4 cases) or a PAIS and a MAIS phenotype (8 cases) has been described, indicating that phenotype does not always match with genotype

10.1093/jnen/59.9.808 108 SekineY.IyoM.OuchiY.MatsunagaT.TsukadaH.OkadaH.et al (2001)

Mitochondrial dysfunction impacts energy production at rest and fails to mount a greater energy supply during a period of heightened demand

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Varios estudios adicionales confirmaron que la suplementacin de carnitina por s sola no aumenta la oxidacin de grasas y la descomposicin del glucgeno, y no mejora el rendimiento durante el ejercicio prolongado de ciclismo y carrera