Chapter·PsychiatryGenetic and Metabolic Disorders

Mitochondrial DisordersDownloads

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Sample Questions

1

Mitochondrial abnormalities are associated with which of the following conditions?

AKrabbe's disease

BFabry disease

CLeigh syndrome

DFanconi syndrome

2

A muscle biopsy shows 'moth-eaten' fibers. Which histochemical finding would confirm mitochondrial myopathy?

ARagged red fibers on MGT

BType 1 fiber predominance

CRimmed vacuoles

DNemaline rods

3

Mark the false statement regarding mitochondrial DNA:

AAGA and AGG are stop codons in mitochondrial DNA

BKearns-Sayre Syndrome is a large deletion in mitochondrial DNA

CDoes not show heteroplasmy

D1% of cellular DNA, 13 proteins of respiratory chain

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