Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

被引：51

作者：

D'Amico, A

Haliloglu, G

Richard, P

Talim, B

Maugenre, S

Ferreiro, A

Guicheney, P

Menditto, I

Benedetti, S

Bertini, E ^{[1
]}

Bonne, G

Topaloglu, H

机构：

[1] Bambino Gesu Childrens Res Hosp, Dept Lab Med, Mol Med Unit, Rome, Italy

[2] Hacettepe Childrens Hosp Med Ctr, Dept Clin Neurol, Ankara, Turkey

[3] Hop La Pitie Salpetriere, IFR 14, INSERM U582, Inst Myol, Paris, France

[4] Hacettepe Univ, Fac Med, Dept Pediat, Ankara, Turkey

[5] Lab Clin Mol Biol Diagnost & Ric San Raffaele, Milan, Italy

来源：

NEUROMUSCULAR DISORDERS | 2005年 / 15卷 / 08期

关键词：

dropped head; congenital muscular dystrophy; lamin A/C; SEPN1;

D O I：

10.1016/j.nmd.2005.03.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy. (c) 2005 Elsevier B.V. All rights reserved.

引用

页码：521 / 524

页数：4

共 27 条

[1]

Treatable dropped head syndrome in hypothyroidism [J].

Askmark, H ;

Olsson, Y ;

Rossitti, S .

NEUROLOGY, 2000, 55 (06) :896-897

[2]

Bonne G, 2000, ANN NEUROL, V48, P170, DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO

[3]

2-J

[4]

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy [J].

Caux, F ;

Dubosclard, E ;

Lascols, O ;

Buendia, B ;

Chazouillères, O ;

Cohen, A ;

Courvalin, JC ;

Laroche, L ;

Capeau, J ;

Vigouroux, C ;

Christin-Maitre, S .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (03) :1006-1013

[5]

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse [J].

De Sandre-Giovannoli, A ;

Chaouch, M ;

Kozlov, S ;

Vallat, JM ;

Tazir, M ;

Kassouri, N ;

Szepetowski, P ;

Hammadouche, T ;

Vandenberghe, A ;

Stewart, CL ;

Grid, D ;

Lévy, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :726-736

[6]

POLYMYOSITIS - ITS PRESENTATION, MORBIDITY AND MORTALITY [J].

DEVERE, R ;

BRADLEY, WG .

BRAIN, 1975, 98 (DEC) :637-666

[7]

DUBOWITZ V, 1985, MUSCLE BIOPASY PRACT

[8]

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. [J].

Fatkin, D ;

MacRae, C ;

Sasaki, T ;

Wolff, MR ;

Porcu, M ;

Frenneaux, M ;

Atherton, J ;

Vidaillet, HJ ;

Spudich, S ;

De Girolami, U ;

Seidman, JG ;

Seidman, CE ;

Muntoni, F ;

Muehle, G ;

Johnson, W ;

McDonough, B .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (23) :1715-1724

[9]

Ferreiro, A ;

Groote, CCD ;

Marks, JJ ;

Goemans, N ;

Schreiber, G ;

Hanefeld, F ;

Fardeau, M ;

Martin, JJ ;

Goebel, HH ;

Richard, P ;

Guicheney, P ;

Bönnemann, CG .

ANNALS OF NEUROLOGY, 2004, 55 (05) :676-686

[10]

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies [J].

Ferreiro, A ;

Quijano-Roy, S ;

Pichereau, C ;

Moghadaszadeh, B ;

Goemans, N ;

Bönnemann, C ;

Jungbluth, H ;

Straub, V ;

Villanova, M ;

Leroy, JP ;

Romero, NB ;

Martin, JJ ;

Muntoni, F ;

Voit, T ;

Estournet, B ;

Richard, P ;

Fardeau, M ;

Guicheney, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :739-749

← 1 2 3 →