Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy

被引：0

作者：

Turku, T. ^{[1
]}

Savarese, M. ^{[1
]}

Johari, M. ^{[1
,2
]}

Soininen, M. ^{[1
]}

Hoischen, A. ^{[3
,4
,5
]}

Steehouwer, M. ^{[3
]}

Roos, A. ^{[6
,7
]}

Preusse, C. ^{[8
,9
,10
,11
,12
]}

Stenzel, W. ^{[8
,9
,10
,11
]}

Wallgren-Pettersson, C. ^{[1
]}

Pelin, K. ^{[1
]}

Udd, B. ^{[1
]}

Hackman, P. ^{[1
]}

机构：

[1] Folkhalsan Res Ctr, Helsinki, Finland

[2] Univ Western Australia, Harry Perkins Inst Med Res, Ctr Med Res, Nedlands, WA, Australia

[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Radboud Expertise Ctr Immunodeficiency & Autoinfl, Dept Internal Med,Radboud Inst Mol Life Sci, Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis RCI, Nijmegen, Netherlands

[6] Univ Duisburg Essen, Univ Childrens Hosp, Pediat Neurol, Fac Med, Essen, Germany

[7] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

[8] Charite Univ Med Berlin, Dept Neuropathol, Berlin, Germany

[9] Free Univ Berlin, Berlin, Germany

[10] Humboldt Univ, Berlin, Germany

[11] Berlin Inst Hlth, Berlin, Germany

[12] Charite Univ Med Berlin, Dept Neuropediat, Berlin, Germany

来源：

NEUROMUSCULAR DISORDERS | 2024年 / 43卷

关键词：

D O I：

10.1016/j.nmd.2024.07.426

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

63P

引用

页数：2

共 50 条

[1] Zaspopathy in a large classic late-onset distal myopathy family
Griggs, R.
Vihola, A.
Hackman, P.
Talvinen, K.
Haravuori, H.
Faulkner, G.
Eymard, B.
Richard, I.
Selcen, D.
Engel, A.
Carpen, O.
Udd, B.
BRAIN, 2007, 130 : 1477 - 1484
[2] Markesbery Disease: Autosomal Dominant Late-Onset Distal Myopathy: From Phenotype to ZASP Gene Identification
Griggs, Robert C.
Udd, Bjarne A.
NEUROMOLECULAR MEDICINE, 2011, 13 (01) : 27 - 30
[3] Markesbery Disease: Autosomal Dominant Late-Onset Distal Myopathy: From Phenotype to ZASP Gene Identification
Robert C. Griggs
Bjarne A. Udd
NeuroMolecular Medicine, 2011, 13 : 27 - 30
[4] A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
Claeys, Kristl G.
Savarese, Marco
Jonson, Per Harald
Goosens, Veerle
Topf, Ana
Vihola, Anna
Straub, Volker
Udd, Bjarne
NEUROLOGY-GENETICS, 2024, 10 (05)
[5] Autosomal dominant late adult onset distal leg myopathy
Pénisson-Besnier, I
Dumez, C
Chateau, D
Dubas, F
Fardeau, M
NEUROMUSCULAR DISORDERS, 1998, 8 (07) : 459 - 466
[6] Late-onset laryngomalacia - A variant of disease
Richter, Gresham T.
Rutter, Michael J.
deAlarcon, Alessandro
Orvidas, Laura J.
Thompson, Dana M.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY, 2008, 134 (01) : 75 - 80
[7] Late-onset distal myopathy with a tibial muscular dystrophy-like phenotype in a Belgium family
Van den Bergh, PYK
Bouquiaux, O
Verellen-Dumoulin, C
Martin, JJ
Hackman, P
Udd, B
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S103 - S104
[8] NOVEL VARIANT IN THE PYGM GENE CAUSING LATE-ONSET LIMB-GIRDLE MYOPATHY, PTOSIS, AND CAMPTOCORMIA
Cheraud, Chrystel
Froissart, Roseline
Lannes, Beatrice
Echaniz-Laguna, Andoni
MUSCLE & NERVE, 2018, 57 (01) : 157 - 160
[9] Studies in a large family with late-onset Alzheimer disease (LOAD)
Martin, ES
Martin, SE
Edelsohn, L
Borgaonkar, DS
ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 1997, 11 (03): : 163 - 170
[10] A challenging etiology of myopathy: The late-onset Pompe disease
Inel, Tuba Yuce
Avsar, Aydan Koken
Kisa, Pelin Teke
Ozer, Erdener
Sari, Ismail
EUROPEAN JOURNAL OF RHEUMATOLOGY, 2023, 10 (01) : 26 - 28

← 1 2 3 4 5 →