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Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

NEUROLOGY (2023)

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Ryan L. Davis et al.

Summary: Comprehensive bigenomic sequencing accurately detects causative genetic variants in affected mitochondrial disease patients, providing precise diagnosis, personalized treatment options, and information on genetic transmission risk.

NEUROLOGY (2022)

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Article Medicine, General & Internal

Late onset AMACR deficiency with metabolic stroke-like episodes and seizures

Matthew J. Tanti et al.

Summary: AMACR deficiency is a rare peroxisomal disorder that causes pristanic acid accumulation. We presented a case of a female patient in her seventies who experienced dysphasia, headache, and sensory disturbance, along with unusual brain changes seen on MRI. After eight years, she developed a febrile encephalopathy with hemispheric dysfunction, focal convulsive seizures, and coma. Whole genome sequencing finally revealed the diagnosis of AMACR deficiency, with highly elevated pristanic acid levels.

BMJ CASE REPORTS (2022)

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Article Medicine, General & Internal

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Katherine R. Schon et al.

Summary: Whole genome sequencing is a useful diagnostic test in patients with suspected mitochondrial disorders, providing a definite or probable genetic diagnosis in 31% of patients, with the majority of diagnoses being non-mitochondrial disorders.

BMJ-BRITISH MEDICAL JOURNAL (2021)

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Article Genetics & Heredity

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen et al.

FRONTIERS IN GENETICS (2018)

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Article Clinical Neurology

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

Eleanor J. Baldwin et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

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Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

相关参考文献

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Late onset AMACR deficiency with metabolic stroke-like episodes and seizures

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

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