An atypical case of early-onset dystonia with a novel missense variant in KMT2B-Reference-Cited by-同舟云学术

An atypical case of early-onset dystonia with a novel missense variant in KMT2B

Published:2019-06 Issue: Volume:63 Page:224-226
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Zhou Xin-Yue,Wu Jian-Jun,Sun Yi-Min^ORCID

Funder

National Nature Science Foundation of China

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference7 articles.

1. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia;Meyer;Nat. Genet.,2017

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology;Richards;Genet. Med. Offic. J. Am. Coll. Med. Genet.,2015

3. Proteolytically cleaved MLL subunits are susceptible to distinct degradation pathways;Yokoyama;J. Cell Sci.,2011

4. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B;Gorman;Eur. J. Paediatr. Neurol.,2018

5. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia;Zech;Am. J. Hum. Genet.,2016

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