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Neurogenetics > Random :) > Flashcards

Random :) Flashcards

1
Q

Movement disorders

PD/parkinsonism

chromosome - gene mutation - inheritance

A
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2
Q

Trinucleotide-repeat Diseases

(inheritance, repeats, protein)

Huntington

Fragile X

Myotonic Dystrophy

Friedreich’s ataxia

A

TIPS:

huntingCAG

fraGile X CGG

MyoTonic DysTrophy CTG

Friedreich’s ataxia GAA

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3
Q

XDP

gene, inheritance, chromosome

A

DYT3

X-linked

Xq13.1

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4
Q

Disease, Protein

HYPERkalemic periodic paralysis

HYPOkalemic periodic paralysis

Thomsen’s myotonia congenita

A

HYPERkalemic - sodium channelopathy

HYPOkalemic - Calcium channelopathy

Thomsen’s myotonia congenita - Cholride channelopathy

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Neurogenetics (1 decks)

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