Este trastorno ha sido identificado en cinco generaciones anteriores de una familia de Nueva Zelanda, afecta a personas de ambos géneros, pero es prevalente en varones.
Según informa “Proceedings of the National Academy of Sciences”, investigadores de la University of Otago (Nueva Zelanda), han descubierto una sutil alteración del gen del canal de calcio que origina profundos efectos en la función de dicho canal. Este mismo gen es responsable de otro tipo de daños, como la ceguera nocturna estacionaria congénita relacionada con el cromosoma X incompleto.
El estudio, que comenzó en 1998, todavía no ha revelado por qué el deterioro de ese canal de calcio origina cada uno de los síntomas.
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University of Otago
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