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 - http://www.scopus.com/inward/record.url?scp=85067073340&partnerID=8YFLogxK
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 -
