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

[11] A classic variant of Fabry disease in a family with the M296I late-onset variant
Shuma Hirashio
Reiko Kagawa
Go Tajima
Takao Masaki
CEN Case Reports, 2021, 10 : 106 - 110
[12] A classic variant of Fabry disease in a family with the M296I late-onset variant
Hirashio, Shuma
Kagawa, Reiko
Tajima, Go
Masaki, Takao
CEN CASE REPORTS, 2021, 10 (01) : 106 - 110
[13] Autosomal dominant Late-onset Quadriceps Myopathy: Three Patients of a Taiwanese Kindred
Chien, Yu-Yi
Nonaka, Ikuya
Wang, Daryi
INTERNAL MEDICINE, 2011, 50 (11) : 1175 - 1181
[14] NONVACUOLAR MYOPATHY IN A LARGE FAMILY WITH BOTH LATE ADULT ONSET DISTAL MYOPATHY AND SEVERE PROXIMAL MUSCULAR-DYSTROPHY
UDD, B
RAPOLA, J
NOKELAINEN, P
ARIKAWA, E
SOMER, H
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1992, 113 (02) : 214 - 221
[15] Late-onset autosomal dominant Alzheimer's disease
Hancock, P.
Larner, A. J.
EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 : 187 - 188
[16] A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy
Chompoopong, Pitcha
Milone, Margherita
Niu, Zhiyv
Cui, Gaofeng
Mer, Georges
Liewluck, Teerin
NEUROMUSCULAR DISORDERS, 2022, 32 (06) : 521 - 526
[17] Compound heterozygous mutations in parkin in a large family with late-onset, tremor-dominant Parkinson's disease of pseudo-dominant inheritance
Pramstaller, PP
Klein, C
Kann, M
Schilling, K
Page, CE
Scherer, M
Castellan, C
Vieregge, P
Breakefield, XO
Kramer, P
Ozelius, LJ
NEUROLOGY, 1999, 52 (06) : A555 - A555
[18] LATE-ONSET TYPE OF KRABBE DISEASE IS DOMINANT IN JAPAN AND THE LATE-ONSET MUTANT PRECURSOR SHOWED EFFECTIVE PROCESSING
Arif, Hossain Mohammad
Takanobu, Otomo
Yusuke, Hamada
Keiichi, Ozono
Norio, Sakai
JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S101 - S101
[19] Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes
Suzuki, N
Aok, M
Mizuno, H
Onodera, Y
Takahashi, T
Nagata, T
Tateyama, M
Itoyama, Y
MUSCLE & NERVE, 2005, 32 (06) : 812 - 814
[20] Neuropathologic heterogeneity in autosomal dominant and late-onset Alzheimer disease
Cairns, Nigel J.
BRAIN PATHOLOGY, 2019, 29 : 57 - 58

← 1 2 3 4 5 →