De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Christine Klein; Hauke Baumann; Luisa Olschewski; Henrike Hanssen; Alexander Münchau; Andreas Ferbert; Norbert Brüggemann; Katja Lohmann

doi:10.1016/j.parkreldis.2019.03.018

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Christine Klein, Hauke Baumann, Luisa Olschewski, Henrike Hanssen, Alexander Münchau, Andreas Ferbert, Norbert Brüggemann, Katja Lohmann

Hospital Kassel

12 Citations (Scopus)

Abstract

According to recent statistics from the United Nations High Commissioner for Refugees (https://www.unhcr.org/figures-at-a-glance.html), there are >25 million refugees worldwide which represents the highest levels of displacement on record. Many refugees from the Middle East, especially Syria and neighbouring countries, arrive in Europe. These countries are known to have relatively high rates of consanguinity leading to growing awareness of recessive movement disorders that frequently lack a positive family history and are usually caused by biallelic mutations.

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	64
Pages (from-to)	337-339
Number of pages	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2019.03.018
Publication status	Published - 25.03.2019

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities
SDG 16 Peace, Justice and Strong Institutions

Research Areas and Centers

Research Area: Medical Genetics

Access to Document

10.1016/j.parkreldis.2019.03.018

Cite this

@article{d486edf7727d49b887b5808e824dc30b,

title = "De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient",

abstract = "According to recent statistics from the United Nations High Commissioner for Refugees (https://www.unhcr.org/figures-at-a-glance.html), there are >25 million refugees worldwide which represents the highest levels of displacement on record. Many refugees from the Middle East, especially Syria and neighbouring countries, arrive in Europe. These countries are known to have relatively high rates of consanguinity leading to growing awareness of recessive movement disorders that frequently lack a positive family history and are usually caused by biallelic mutations. ",

author = "Christine Klein and Hauke Baumann and Luisa Olschewski and Henrike Hanssen and Alexander M{\"u}nchau and Andreas Ferbert and Norbert Br{\"u}ggemann and Katja Lohmann",

note = "doi: 10.1016/j.parkreldis.2019.03.018",

year = "2019",

month = mar,

day = "25",

doi = "10.1016/j.parkreldis.2019.03.018",

language = "English",

volume = "64",

pages = "337--339",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier Ltd",

}

TY - JOUR

T1 - De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

AU - Klein, Christine

AU - Baumann, Hauke

AU - Olschewski, Luisa

AU - Hanssen, Henrike

AU - Münchau, Alexander

AU - Ferbert, Andreas

AU - Brüggemann, Norbert

AU - Lohmann, Katja

N1 - doi: 10.1016/j.parkreldis.2019.03.018

PY - 2019/3/25

Y1 - 2019/3/25

N2 - According to recent statistics from the United Nations High Commissioner for Refugees (https://www.unhcr.org/figures-at-a-glance.html), there are >25 million refugees worldwide which represents the highest levels of displacement on record. Many refugees from the Middle East, especially Syria and neighbouring countries, arrive in Europe. These countries are known to have relatively high rates of consanguinity leading to growing awareness of recessive movement disorders that frequently lack a positive family history and are usually caused by biallelic mutations.

AB - According to recent statistics from the United Nations High Commissioner for Refugees (https://www.unhcr.org/figures-at-a-glance.html), there are >25 million refugees worldwide which represents the highest levels of displacement on record. Many refugees from the Middle East, especially Syria and neighbouring countries, arrive in Europe. These countries are known to have relatively high rates of consanguinity leading to growing awareness of recessive movement disorders that frequently lack a positive family history and are usually caused by biallelic mutations.

UR - https://www.ncbi.nlm.nih.gov/pubmed/30935829

UR - https://www.scopus.com/pages/publications/85067073340

UR - http://www.mendeley.com/research/denovo-kmt2b-mutation-consanguineous-family-15year-followup-afghan-dystonia-patient

U2 - 10.1016/j.parkreldis.2019.03.018

DO - 10.1016/j.parkreldis.2019.03.018

M3 - Letters

SN - 1353-8020

VL - 64

SP - 337

EP - 339

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Abstract

UN SDGs

Research Areas and Centers

Access to Document

Other files and links

Fingerprint

Cite this