A 19 year old woman presents with episodic muscle weakness and exercise intolerance. She has a history of sensorineural hearing loss and migraine like headaches. Her mother and maternal uncle have similar symptoms, but her father is unaffected and none of his relatives are affected. Which of the following best explains the inheritance pattern of this disorder?
- A)X linked recessive transmission
- B)Mitochondrial inheritance due to mutation in maternal mitochondrial DNAGABARITO
- C)Autosomal recessive unmasking through consanguinity
- D)Genomic imprinting with paternal silencing
- E)Autosomal dominant mutation with variable penetrance
Explicação
This pedigree is most consistent with mitochondrial inheritance. Mitochondria are transmitted from the oocyte, so affected mothers can transmit disease to all children, whereas affected fathers do not pass the mutation to offspring. Heteroplasmy often creates ... Ver explicação completa e trilha adaptativa →