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Mitochondrial myopathy





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Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Mitochondrial myopathy


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High Yield Notes
4 pages

Mitochondrial myopathy

6 flashcards

USMLE® Step 1 style questions USMLE

2 questions

A 20-year-old woman is evaluated in the emergency department for a suspected generalized tonic-clonic seizure. The episode occurred an hour ago when she was with her roommate, who states the patient started uncontrollably flexing and extending her upper and lower limbs for 1 minute. She has a history of recurrent seizures for the past 2 years, and she lost partial vision due to occipital lobe infarction last year. Family history is not available because the patient was adopted as a child. Neurological examination shows decreased sensation and weakness of bilateral lower extremities. The patient is admitted for further evaluation. Serum lactate levels are 3.3 mmol/L. Skeletal muscle biopsy shows proliferation of mitochondria that appear bright red compared to the blue myofibers when stained with Gomori trichrome stain. This patient’s condition is best described as which of the following?

Memory Anchors and Partner Content

Content Reviewers:

Rishi Desai, MD, MPH

Primary mitochondrial myopathy is a rare genetic disorder that occurs when there are mutated mitochondria in muscle cells, especially skeletal muscle cells.

These mitochondria are unable to generate adenosine triphosphate, or ATP, which is a form of energy used by our cells.

As a result, muscle cells, which require a lot of energy to function, stop functioning properly.

The mitochondria are the main energy producing factories of a cell, and they do so with the help of the electron transport chain, and the enzyme ATP synthase.

The electron transport chain is made up of complexes of proteins or lipids, called electron carriers, embedded within the inner mitochondrial membrane which pass electrons along like the baton in a relay race.

This movement of electrons helps establish a proton gradient that drives ATP synthase to phosphorylate adenosine diphosphate or ADP into ATP.

Primary mitochondrial myopathy is caused by a mutation either in the mitochondrial DNA or nuclear DNA, which results in the abnormal production of mitochondrial proteins, impairing the function of the electron transport chain.

Mutations in the nuclear DNA are commonly inherited in an autosomal dominant fashion, which means one mutated gene is enough to cause the disease; or autosomal recessive fashion, which means two mutated genes, one from each parent, are needed to cause the disease.

Mutations in the mitochondrial DNA follow maternal inheritance , meaning that only an affected woman can pass on the disease to her children.

This is because, typically during fertilization, the father's mitochondria are left behind while the sperm’s nucleus alone enters the egg.

The exception is the mitochondrial DNA single deletion, a common cause of primary mitochondrial myopathy, which is always sporadic and cannot be transmitted to the offspring.

In primary mitochondrial myopathy, muscle cells are unable to generate ATP, which results in muscle weakness and fatigue.

Sometimes there may also be muscle pain, cramping, stiffness, or even paralysis of the muscle.

Individuals typically develop exercise intolerance, which is a reduced ability to perform physical activity.

Symptoms vary based on the group of muscles affected.

In most individuals, the first to be affected are the extraocular muscles which control eye movements, which results in progressive external ophthalmoplegia.


Mitochondrial myopathies refers to a group of neuromuscular disorders caused by damage to the mitochondria, which are the energy-producing organelles in cells. This damage can disrupt the normal function of muscles and organs. Symptoms may include body weakness, exercise intolerance, loss of muscle mass, and problems with breathing, seizures, ophthalmoplegia (paralysis of eye muscles), and hypotonia (abnormally reduced muscle tone).

  1. "Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy" Neurology (2018)