Genotype phenotype correlation in individuals with nemaline myopathy due to skeletal muscle actin gene mutations

被引:0
|
作者
Agrawal, PB [1 ]
Strickland, CD [1 ]
Midgett, C [1 ]
Ryan, M [1 ]
Poulos, MA [1 ]
Newburger, DE [1 ]
Beggs, AH [1 ]
机构
[1] Childrens Hosp, Dept Pediat, Boston, MA 02115 USA
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
1486
引用
收藏
页码:260A / 260A
页数:1
相关论文
共 50 条
  • [1] Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
    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
    [J]. NATURE GENETICS, 1999, 23 (02) : 208 - 212
  • [2] Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
    Kristen J. Nowak
    Duangrurdee Wattanasirichaigoon
    Hans H. Goebel
    Matthew Wilce
    Katarina Pelin
    Kati Donner
    Rebecca L. Jacob
    Christoph Hübner
    Konrad Oexle
    Janice R. Anderson
    Christopher M. Verity
    Kathryn N. North
    Susan T. Iannaccone
    Clemens R. Müller
    Peter Nürnberg
    Francesco Muntoni
    Caroline Sewry
    Imelda Hughes
    Rebecca Sutphen
    Atilano G. Lacson
    Kathryn J. Swoboda
    Jaqueline Vigneron
    Carina Wallgren-Pettersson
    Alan H. Beggs
    Nigel G. Laing
    [J]. Nature Genetics, 1999, 23 : 208 - 212
  • [3] Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
    Wallgren-Pettersson, C
    Pelin, K
    Nowak, KJ
    Muntoni, F
    Romero, NB
    Goebel, HH
    North, KN
    Beggs, AH
    Laing, NG
    [J]. NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 461 - 470
  • [4] Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations
    Agrawal, PB
    Strickland, CD
    Midgett, C
    Morales, A
    Newburger, DE
    Poulos, MA
    Tomczak, KK
    Ryan, MM
    Iannaccone, ST
    Crawford, TO
    Laing, NG
    Beggs, MH
    [J]. ANNALS OF NEUROLOGY, 2004, 56 (01) : 86 - 96
  • [5] Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
    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
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) : 1333 - 1343
  • [6] Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene
    Jungbluth, H
    Sewry, CA
    Brown, SC
    Nowak, KJ
    Laing, NG
    Wallgren-Pettersson, C
    Pelin, K
    Manzur, AY
    Mercuri, E
    Dubowitz, V
    Muntoni, F
    [J]. NEUROMUSCULAR DISORDERS, 2001, 11 (01) : 35 - 40
  • [7] Nemaline myopathy associated with dominant inheritance and mutations in the skeletal muscle alpha-actin gene
    Iannaccone, ST
    Schnell, C
    Muirhead, D
    Houston, R
    Romero, B
    Burns, D
    Strickland, CD
    Midgett, C
    Ryan, M
    Beggs, A
    Tilton, AH
    [J]. NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 624 - 624
  • [8] Clinical, pathological and molecular findings in nemaline myopathy cases caused by mutations in the skeletal muscle actin gene
    Strickland, CD
    Midgett, C
    Ryan, M
    Poulos, MA
    Newburger, DE
    Beggs, AH
    [J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2003, 51 : S386 - S387
  • [9] Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTAI)
    Wallefeld, William
    Sabine, Krause
    Nowak, Kristen
    Horvath, Rita
    Molnar, Zoltan
    Szabo, Miklos
    Nishino, Ichizo
    Lochmueller, Harms
    Laing, Nigel
    [J]. NEUROMUSCULAR DISORDERS, 2006, 16 : S87 - S88
  • [10] Genotype-phenotype correlation in nemaline myopathy.
    Ryan, MM
    Schnell, C
    Strickland, CD
    Shield, LK
    Morgan, G
    Iannaccone, ST
    Laing, NG
    North, KN
    Beggs, AH
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 638 - 638