ArticleCase reports in genetics2015
Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene.
Article in Case reports in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Pelizaeus-Merzbacher disease in children: A case report.Radiology case reports · 2026Article
- Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.BMC medical genomics · 2023Review
- Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: "A Rare Case Report".Global pediatric health · 2023Article
- Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.Human mutation · 2020Article
- Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.Journal of human genetics · 2019Article
- Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.European journal of human genetics : EJHG · 2017Article
- Rare Case of Female with Pelizaeus Mertzbacher Disease due to deletion of Proteolipid Protein 1: A Case Report.JNMA; journal of the Nepal Medical AssociationArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.
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Registered trials
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