ArticleClinical genetics2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Article in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.Journal of the peripheral nervous system : JPNS · 2026Article
- Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.Journal of the peripheral nervous system : JPNS · 2025Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Article
- CRISPR activation to characterize splice-altering variants in easily accessible cells.American journal of human genetics · 2024Article
- Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.International journal of molecular sciences · 2024Article
- Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.Brain pathology (Zurich, Switzerland) · 2024Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Review
- Article
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.Journal of human genetics · 2022Article
- Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.Trends in genetics : TIG · 2022Review
- Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.Case reports in pediatrics · 2022Article
- Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.Clinical genetics · 2021Article
- Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.Frontiers in neurology · 2021Article
- Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase (CK), and cerebrospinal fluid (CSF) protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were different from those observed in other countries. We identified 11 novel pathogenic variants from 13 patients. Six novel MPZ variants in eight patients were classified as likely benign or uncertain significance. Cranial nerve involvement was confirmed in 20 patients. Of 30 patients in whom serum CK levels were evaluated, eight had elevated levels. Most of the patients had age of onset >20 years. In another subset of 30 patients, 18 had elevated CSF protein levels; four of these patients had spinal diseases and two had enlarged nerve root or cauda equina. Our results suggest genetic diversity across patients with MPZ variants.
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