Enf Mitocondriales Flashcards

1
Q

Sd Alpers fenotipo mutación

A

Sd Hepato cerebral infantil POLG1

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2
Q

Definición de deplecion ADN mitocondrial

A

Niveles <30% respecto controles emparejados por edad y sexo

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3
Q

sd. kearns-sayre qué tríada

A

retinopatía + CPEO + bloqueos ritmo cardíaco onset >20 a

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