Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy

被引：10

作者：

Malfatti, Edoardo ^{[1
,2
]}

Monges, Soledad ^{[3
]}

Lehtokari, Vilma-Lotta ^{[4
,5
]}

Schaeffer, Ursula ^{[6
]}

Neto, Osorio Abath ^{[6
]}

Kiiski, Kirsi ^{[4
,5
]}

Lubieniecki, Fabiana ^{[3
]}

Lia Taratuto, Ana ^{[3
]}

Wallgren-Pettersson, Carina ^{[7
,8
]}

Laporte, Jocelyn ^{[6
]}

Romero, Norma B. ^{[1
,2
]}

机构：

[1] Univ Paris 06, Sorbonne Univ, INSERM UMRS974, Ctr Res Myol,GH Pitie Salpetriere,CNRS FRE3617, F-75013 Paris, France

[2] GHU La Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France

[3] Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina

[4] Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki, Finland

[5] Biomedicum Helsinki, Folkhalsan Inst Genet, Helsinki, Finland

[6] Strasbourg Univ, UMR7104, INSERM U964, Dept Translat Med,IGBMC, Illkirch Graffenstaden, France

[7] Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland

[8] Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2015年 / 58卷 / 10期

关键词：

Congenital myopathies; Core-rod myopathies; Nebulin; Distal myopathies; Foot drop; ONSET DISTAL MYOPATHY; NEMALINE MYOPATHY; RYANODINE RECEPTOR; MUTATIONS; VARIANTS; UPDATE; TOOL;

D O I：

10.1016/j.ejmg.2015.09.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Congenital myopathies (CM) are a group of rare inherited muscle disorders characterized by particular histopathological alterations on muscle biopsy. Core-rod myopathy is a CM presenting with cores and rods as distinctive muscle morphological features. Methods/results: We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. Conclusions: This report illustrates that core-rod congenital myopathy with foot-drop is frequently associated with NEB gene mutations and should be considered in the differential diagnosis of early onset distal myopathies. (C) 2015 Elsevier Masson SAS. All rights reserved.

引用

页码：556 / 561

页数：6

共 31 条

[31] Molecular mechanisms and phenotypic variation in RYRI=related congenital myopathies
Zhou, Haiyan
Jungbluth, Heinz
Sewry, Caroline A.
Feng, Lucy
Bertini, Enrico
Bushby, Kate
Straub, Volker
Roper, Helen
Rose, Michael R.
Brockington, Martin
Kinali, Maria
Manzur, Adnan
Robb, Stephanie
Appleton, Richard
Messina, Sonia
D'Amico, Adele
Quinlivan, Ros
Swash, Michael
Mueller, Clemens R.
Brown, Susan
Treves, Susan
Muntoni, Francesco
[J]. BRAIN, 2007, 130 : 2024 - 2036

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