Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

被引：8

作者：

Bouldin, Anthony A.

Parisi, Melissa A.

Laing, Nigel

Patterson, Kathleen

Gospe, Sidney M., Jr.

机构：

[1] Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA

[2] Univ Washington, Dept Pediat, Div Pediat Neurol, Seattle, WA 98105 USA

[3] Univ Washington, Dept Pediat, Div Genet & Dev Med, Seattle, WA 98105 USA

[4] Childrens Hosp & Reg Med Ctr, Seattle, WA USA

[5] Univ Western Australia, Western Australia Inst Med Res, Ctr Med Res, Nedlands, WA 6009, Australia

[6] Childrens Hosp & Reg Med Ctr, Dept Lab Med & Pathol, Seattle, WA USA

来源：

MUSCLE & NERVE | 2007年 / 35卷 / 02期

关键词：

actin; alpha actin gene; congenital myopathy; nemaline myopathy; phenotypic variability;

D O I：

10.1002/mus.20662

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.

引用

页码：254 / 258

页数：5

共 17 条

[1]

Mutations in the β-tropomyosin (TPM2) gene -: a rare cause of nemaline myopathy [J].

Donner, K ;

Ollikainen, M ;

Ridanpää, M ;

Christen, HJ ;

Goebel, HH ;

de Visser, M ;

Pelin, K ;

Wallgren-Pettersson, C .

NEUROMUSCULAR DISORDERS, 2002, 12 (02) :151-158

[2]

CENTRAL CORE DISEASE OF MUSCLE - CLINICAL, HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF AN AFFECTED MOTHER AND CHILD [J].

DUBOWITZ, V ;

ROY, S .

BRAIN, 1970, 93 :133-&

[3]

Gyure KA, 1997, ARCH PATHOL LAB MED, V121, P1210

[4]

Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene [J].

Ilkovski, B ;

Cooper, ST ;

Nowak, K ;

Ryan, MM ;

Yang, N ;

Schnell, C ;

Durling, HJ ;

Roddick, LG ;

Wilkinson, I ;

Kornberg, AJ ;

Collins, KJ ;

Wallace, G ;

Gunning, P ;

Hardeman, EC ;

Laing, NG ;

North, KN .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1333-1343

[5]

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. [J].

Johnston, JJ ;

Kelley, RI ;

Crawford, TO ;

Morton, DH ;

Agarwala, R ;

Koch, T ;

Schäffer, AA ;

Francomano, CA ;

Biesecker, LG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :54-54

[6]

A MUTATION IN THE ALPHA-TROPOMYOSIN GENE TPM3 ASSOCIATED WITH AUTOSOMAL-DOMINANT NEMALINE MYOPATHY NEM1 (VOL 9, PG 75, 1995) [J].

LAING, N ;

WILTON, S ;

AKKARI, P ;

DOROSZ, S ;

BOUNDY, K ;

KNEEBONE, C ;

BLUMBERGS, P ;

WHITE, S ;

WATKINS, H ;

LOVE, D ;

HAAN, E .

NATURE GENETICS, 1995, 10 (02) :249-249

[7]

MARTINEZ BA, 1987, DEV MED CHILD NEUROL, V29, P815

[8]

Nemaline myopathy: current concepts [J].

North, KN ;

Laing, NG ;

WallgrenPettersson, C ;

Akkari, A ;

Barohn, R ;

Barth, P ;

Beggs, A ;

delaChapelle, A ;

deVisser, M ;

Dubowitz, V ;

Fiszman, M ;

Goebel, H ;

Iannaccone, S ;

Jasani, B ;

Labeit, S ;

Lammens, M ;

Navarro, C ;

Newman, G ;

Pelin, K ;

Romero, N ;

Sewry, C ;

Sloane, A .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (09) :705-713

[9]

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy [J].

Nowak, KJ ;

Wattanasirichaigoon, D ;

Goebel, HH ;

Wilce, M ;

Pelin, K ;

Donner, K ;

Jacob, RL ;

Hübner, C ;

Oexle, K ;

Anderson, JR ;

Verity, CM ;

North, KN ;

Iannaccone, ST ;

Müller, CR ;

Nürnberg, P ;

Muntoni, F ;

Sewry, C ;

Hughes, I ;

Sutphen, R ;

Lacson, AG ;

Swoboda, KJ ;

Vigneron, J ;

Wallgren-Pettersson, C ;

Beggs, AH ;

Laing, NG .

NATURE GENETICS, 1999, 23 (02) :208-212

[10]

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy [J].

Pelin, K ;

Hilpelä, P ;

Donner, K ;

Sewry, C ;

Akkari, PA ;

Wilton, SD ;

Wattanasirichaigoon, D ;

Bang, ML ;

Centner, T ;

Hanefeld, F ;

Odent, S ;

Fardeau, M ;

Urtizberea, JA ;

Muntoni, F ;

Dubowitz, V ;

Beggs, AH ;

Laing, NG ;

Labeit, S ;

de la Chapelle, A ;

Wallgren-Pettersson, C .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (05) :2305-2310

← 1 2 →