Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia

被引：0

作者：

Distelmaier, Felix ^{[1
,2
,3
,12
]}

Sezer, Abdullah ^{[4
]}

Helm, Christina ^{[5
]}

Waldmueller, Stephan ^{[5
]}

Seibt, Annette ^{[1
,2
]}

Gangfuss, Andrea ^{[6
]}

Koelbel, Heike ^{[6
]}

Schara-Schmidt, Ulrike ^{[6
]}

Yuksel, Deniz ^{[7
]}

Talim, Beril ^{[8
]}

Mayatepek, Ertan ^{[1
,2
,3
]}

Nikolin, Stefan ^{[9
]}

Weis, Joachim ^{[9
]}

Roos, Andreas ^{[2
,6
,10
,11
]}

Haack, Tobias B. ^{[5
]}

机构：

[1] Heinrich Heine Univ, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany

[2] Heinrich Heine Univ, Univ Hosp Dusseldorf, D-40225 Dusseldorf, Germany

[3] West German Ctr Child & Adolescent Hlth, Dept Gen Pediat, Partner Site Dusseldorf, D-40225 Dusseldorf, Germany

[4] Etlik City Hosp, Dept Med Genet, TR-06170 Ankara, Turkiye

[5] Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany

[6] Univ Duisburg Essen, Ctr Neuromuscular Disorders, Ctr Translat Neuro & Behav Sci, Dept Pediat Neurol, D-45147 Essen, Germany

[7] Etlik City Hosp, Dept Pediat, Div Pediat Neurol, TR-06170 Ankara, Turkiye

[8] Hacettepe Univ, Dept Pediat, Pediat Pathol Unit, TR-06230 Ankara, Turkiye

[9] RWTH Aachen Univ Hosp, Inst Neuropathol, D-52074 Aachen, Germany

[10] Childrens Hosp Eastern Ontario Res Inst, Brain & Mind Res Inst, Ottawa, ON K1H 8L1, Canada

[11] Heinrich Heine Univ, Med Fac, Dept Neurol, D-40225 Dusseldorf, Germany

[12] Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, Germany

来源：

BRAIN | 2024年 / 147卷 / 07期

关键词：

D O I：

10.1093/brain/awae099

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：e45 / e49

页数：5

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