Autosomal dominant distal myopathy not linked to chromosome 14

被引:0
作者
Felice, K
Meredith, C
Binz, N
Butler, A
Akkari, P
Laing, N
机构
[1] UNIV CONNECTICUT,SCH MED,DEPT NEUROL,FARMINGTON,CT 06030
[2] QEII MED CTR,AUSTRALIAN NEUROMUSCULAR RES INST,NEDLANDS,WA 6009,AUSTRALIA
[3] DUKE UNIV,DIV NEUROSCI,DURHAM,NC 27710
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1372 / 1372
页数:1
相关论文
共 50 条
[21]   Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2 [J].
Durr, A ;
Davoine, CS ;
Paternotte, C ;
vonFellenberg, J ;
Cogilnicean, S ;
Coutinho, P ;
Lamy, C ;
Bourgeois, S ;
Prudhomme, JF ;
Penet, C ;
Mas, JL ;
Burgunder, JM ;
Hazan, J ;
Weissenbach, J ;
Brice, A ;
Fontaine, B .
BRAIN, 1996, 119 :1487-1496
[22]   AUTOSOMAL RECESSIVE DISTAL MYOPATHY [J].
ISAACS, H ;
BADENHORST, ME ;
WHISTLER, T .
JOURNAL OF CLINICAL PATHOLOGY, 1988, 41 (02) :188-194
[23]   ASSIGNMENT OF A GENE (NEMI) FOR AUTOSOMAL DOMINANT NEMALINE MYOPATHY TO CHROMOSOME-I [J].
LAING, NG ;
MAJDA, BT ;
AKKARI, PA ;
LAYTON, MG ;
MULLEY, JC ;
PHILLIPS, H ;
HAAN, EA ;
WHITE, SJ ;
BEGGS, AH ;
KUNKEL, LM ;
GROTH, DM ;
BOUNDY, KL ;
KNEEBONE, CS ;
BLUMBERG, PC ;
WILTON, SD ;
SPEER, MC ;
KAKULAS, BA .
AMERICAN JOURNAL OF HUMAN GENETICS, 1992, 50 (03) :576-583
[24]   A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14 [J].
Choi, Byung-Ok ;
Kang, Sung Hee ;
Hyun, Young Se ;
Kanwal, Sumaria ;
Park, Sun Wha ;
Koo, Heasoo ;
Kim, Sang-Beom ;
Choi, Young-Chul ;
Yoo, Jeong Hyun ;
Kim, Jong-Won ;
Park, Kee Duk ;
Choi, Kyoung-Gyu ;
Kim, Song Ja ;
Zuechner, Stephan ;
Chung, Ki Wha .
HUMAN MUTATION, 2011, 32 (06) :669-677
[25]   Myopathy with hexagonally cross-linked tubular arrays: A new autosomal dominant or sporadic congenital myopathy [J].
Bourque, PR ;
Lach, B ;
Carpenter, S ;
Rippstein, P .
ANNALS OF NEUROLOGY, 1999, 45 (04) :512-515
[26]   Distal myopathy with rimmed vacuoles linked to chromosome 12 in a Saudi kindred [J].
Cupler, J ;
Hodgkinson, CA ;
Abu-Amero, SN ;
Lach, B ;
Meyer, BF ;
Kambouris, M ;
Boumah, CE ;
Bohlega, SA ;
Bharucha, VA .
NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) :767-768
[27]   New form of autosomal dominant distal myopathy with childhood onset with linkage to a new locus [J].
von Deimling, F ;
Hoffmann, K ;
Lindner, T ;
Bönnemann, C ;
Herrmann, R ;
Steinbrecher, A ;
Brockmann, K ;
Voit, T ;
Nuernberg, P .
NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) :768-768
[28]   Autosomal dominant 'zonular pulverulent' cataract linked to human chromosome 13 [J].
Mackay, DS ;
Ionides, ACW ;
Berry, V ;
Moore, AT ;
Bhattacharya, SS ;
Shiels, A .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) :2721-2721
[29]   Autosomal dominant nonsyndromic cleft lip and palate linked to chromosome 4 [J].
Edwards, M ;
Roddick, L ;
Scott, R .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) :284-284
[30]   Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy [J].
Wilhelmsen, KC ;
Blake, DM ;
Lynch, T ;
Mabutas, J ;
DeVera, M ;
Neystat, M ;
Bernstein, M ;
Hirano, M ;
Gilliam, TC ;
Murphy, PL ;
Sola, MD ;
Bonilla, E ;
Schotland, DL ;
Hays, AP ;
Rowland, LP .
ANNALS OF NEUROLOGY, 1996, 39 (04) :507-520