HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

被引：24

作者：

Echaniz-Laguna, Andoni ^{[1
]}

Lornage, Xaviere ^{[2
]}

Lannes, Beatrice ^{[3
]}

Schneider, Raphael ^{[4
]}

Bierry, Guillaume ^{[5
]}

Dondaine, Nicolas ^{[6
]}

Boland, Anne ^{[7
]}

Deleuze, Jean-Francois ^{[7
]}

Bohm, Johann ^{[2
]}

Thompson, Julie ^{[4
]}

Laporte, Jocelyn ^{[2
]}

Biancalana, Valerie ^{[2
,6
]}

机构：

[1] CHRU, Neuromuscular Dis Ctr CERNEST, Dept Neurol, Strasbourg, France

[2] Univ Strasbourg, Federat Med Translat Strasbourg, CNRS, IGBMC,INSERM,U964,UMR7104, Illkirch Graffenstaden, France

[3] CHRU, Dept Pathol, Strasbourg, France

[4] ICube, UMR7357, Strasbourg, France

[5] CHRU, Dept Radiol, Strasbourg, France

[6] CHRU, Lab Diagnost Genet, Strasbourg, France

[7] CNG, Evry, France

来源：

ACTA NEUROPATHOLOGICA | 2017年 / 134卷 / 01期

关键词：

DISEASE TYPE 2L; MOTOR NEUROPATHY; MUTATIONS;

D O I：

10.1007/s00401-017-1724-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：163 / 165

页数：3

共 50 条

[41] Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy
Savarese, M.
Palmio, J.
Poza, J.
Weinberg, J.
Olive, M.
Cobo, A.
Vihola, A.
Jonson, R.
Sarparanta, J.
Garcia-Bragado, F.
Urtizberea, J.
Hackman, P.
Udd, B.
NEUROMUSCULAR DISORDERS, 2019, 29 : S120 - S121
[42] SPORADIC DISTAL MYOPATHY WITH EARLY ADULT ONSET
PASSERO, S
GIANNINI, F
GIONI, R
ORRICO, D
TOMELLERI, G
CLINICAL NEUROPATHOLOGY, 1988, 7 (04) : 195 - 195
[43] SPORADIC DISTAL MYOPATHY WITH EARLY ADULT ONSET
MILLER, RG
BLANK, NK
LAYZER, RB
ANNALS OF NEUROLOGY, 1979, 5 (03) : 220 - 227
[44] HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes
Kwok, Alice S.
Phadwal, Kanchan
Turner, Bradley J.
Oliver, Peter L.
Raw, Annie
Simon, Anna Katharina
Talbot, Kevin
Agashe, Vishwas R.
JOURNAL OF NEUROCHEMISTRY, 2011, 119 (06) : 1155 - 1161
[45] ADULT-ONSET OF NEMALINE MYOPATHY PRESENTING AS RESPIRATORY INSUFFICIENCY
FALGATIRADO, C
PEREZPEMAN, P
ORDIROS, J
BOFILL, JM
BALCELLS, E
RESPIRATION, 1995, 62 (06) : 353 - 354
[46] Adult-onset myopathy with characteristic inclusions and autophagic vacuoles
Olive, M.
Miralles, X.
Baiges, J.
Cabrera, M.
Ravescroft, G.
Laing, N.
Moreno, D.
Vidal, N.
NEUROMUSCULAR DISORDERS, 2016, 26 : S191 - S191
[47] ADULT-ONSET NEMALINE MYOPATHY - A DISTINCT NOSOLOGIC ENTITY
PALMUCCI, L
DORIGUZZI, C
MONGINI, T
CHIADOPIAT, L
CLINICAL NEUROPATHOLOGY, 1993, 12 (03) : 153 - 155
[48] Pregnancy outcome in adult-onset idiopathic inflammatory myopathy
Silva, CA
Sultan, SM
Isenberg, DA
RHEUMATOLOGY, 2003, 42 (10) : 1168 - 1172
[49] An atypical presentation of sporadic adult-onset centronuclear myopathy
Pistolesi, S.
Masini, M.
Ali, G.
Nuti, S.
D'Agostino, J.
Mancuso, M.
Volpi, L.
Galli, R.
Siciliano, G.
Fontanini, G.
CLINICAL NEUROPATHOLOGY, 2007, 26 (01) : 34 - 37
[50] Adult-Onset Nemaline Myopathy Presenting as Respiratory Failure
Kelly, Emer
Farrell, Michael A.
McElvaney, Noel G.
RESPIRATORY CARE, 2008, 53 (11) : 1490 - 1494

← 1 2 3 4 5 →