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Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's Disease

28 Jun 2024

Abstract excerpt

About 5% to 10% of Parkinson's disease (PD) cases are monogenic; otherwise PD is generally known to be idiopathic. Although more than a dozen genes that contain disease-causing mutations have been identified to date, PRKN is the most frequently mutated gene in autosomal recessive early-onset PD (EOPD).1 However, the genetic cause of patients with a typical PRKN phenotype is sometimes elusive because of the...

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PMID: 38943243
DOI: 10.1002/mds.29914

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Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's DiseasePMID 38943243Read ↗

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