A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal heredita...
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
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Author / Creator
Zhang, Bentuo , Gang, Qiang , Meng, Lingchao , Li, Zhenyu , Chu, Xujun , Wu, Haohao , Yang, Junsu , Huang, Baogang and Du, Kang
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chinese families, respectively. Next-generation sequencing and n...
Alternative Titles
Full title
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a59a221d562c413cbf2e529d47a4d533
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a59a221d562c413cbf2e529d47a4d533
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-01996-3
