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Neurologia > Genetica > Flashcards

Genetica Flashcards

1
Q

Quais os genes com variantes atribuídos a patogênese da síndrome de Charcot-Marie-Tooth?

A

PMP22, MPZ, GJB1, MFN2

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2
Q

Quais as doenças relacionados ao CACNA1A?

A

Migrania hemiplégica familiar
SCA 6
Ataxia episódica

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3
Q

Gene CACNA1A: qual a doença?

A

Migrania hemiplégica familiar

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4
Q

Migrania hemiplégica familiar: sintomas

A

Aura visual
Hemiplegia 30-60 min
Ataxia episódica ou progressiva

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5
Q
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Neurologia (21 decks)

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