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 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Parkinsonism and Related Disorders
Jahrgang	64
Seiten (von - bis)	337-339
Seitenumfang	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2019.03.018
Publikationsstatus	Veröffentlicht - 25.03.2019

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10.1016/j.parkreldis.2019.03.018

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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. ",

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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

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