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ABC > Muskeldystrofier > Flashcards

Muskeldystrofier Flashcards

1
Q

Vad är Duchenne / Becker muskeldystrofi ?

A

Progressiv, svår, X-bunden muskelsjukdom Svårt att gå, resa sig Motoriska utvecklingen avstannar

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2
Q

Nämn genetisk orsak till Duchenne / Becker muskeldystrofi.

A

Loss-of-function mutation (oftast deletion) i dystrofingenen på X-kromosomen Dystrofin stabiliserar sannolikt cellmembranen under muskelkontraktionen

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3
Q

Vad syns på bilden?

A

Duchenne muskeldystrofi (DMD)

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