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TMLHE mutations are surprisingly common Two recent studies have found that the prevalence of TMLHE mutations in human populations may range from about 1 in 350 to about 1 in 900

60 mL Femenina Descripcin: Indicaciones Aprobadas por el INHRR: Deficiencia congnita de Levocarnitina

Journal of the American College of Cardiology, 70 (1), 101113

It is unclear if this is due to the limited number of patients examined at a molecular level, or to the fact that variations in the extracellular domain have limited functional significance, or perhaps because the phenotype produced by extracellular mutations differs from the classic phenotype, with patients escaping ascertainment