A novel mutation in the caveolin-3 gene causing familial isolated hypercekemia

被引：0
|
作者：
Gallano, P
Alías, L
Ferrer, L
Freixas, A
Rodríguez, M
Baiget, M
Olivé, M
机构：
[1] Hosp St Pau, Dept Genet, Barcelona, Spain
[2] Bellvitge Hosp, Dept Neuropathol, Barcelona, Spain
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
584
引用
收藏
页码：270 / 270
页数：1
相关论文
共 50 条
  • [1] A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia
    Alias, L
    Gallano, P
    Moreno, D
    Pujol, R
    Martínez-Matos, JA
    Baiget, M
    Ferrer, I
    Olivé, M
    NEUROMUSCULAR DISORDERS, 2004, 14 (05) : 321 - 324
  • [2] Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
    Merlini, L
    Carbone, I
    Capanni, C
    Sabatelli, P
    Tortorelli, S
    Sotgia, F
    Lisanti, MP
    Bruno, C
    Minetti, C
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2002, 73 (01): : 65 - 67
  • [3] A novel missense mutation in the caveolin-3 gene in rippling muscle disease
    Lorenzoni, Paulo J.
    Scola, Rosana H.
    Vieira, Natassia
    Vainzof, Mariz
    Carsten, Ana L. M.
    Werneck, Lineu C.
    MUSCLE & NERVE, 2007, 36 (02) : 258 - 260
  • [4] Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation
    Otero-Loperena, Eduardo
    Ortiz-Santiago, Ana
    Ramos, Edwardo
    AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION, 2021, 100 (07) : E101 - E103
  • [5] Novel missense mutation in the caveolin-3 gene in a case of rippling muscle disease
    Lorenzoni, P. J.
    Carsten, A. L. M.
    Vieira, N.
    Vainzof, M.
    Zatz, M.
    Scola, R. H.
    Werneck, L. C.
    JOURNAL OF NEUROLOGY, 2006, 253 : 105 - 105
  • [6] Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene (vol 73, pg 65, 2002)
    Merlini, L
    Carbone, I
    Capanni, C
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2003, 74 (01): : 142 - 142
  • [7] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease
    Van den Bergh, PYK
    Gérard, JM
    Elosegi, JA
    Manto, MU
    Kubisch, C
    Schoser, BGH
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (09): : 1349 - 1351
  • [8] Novel missense mutation in the caveolin-3 gene in a Belgian patient with rippling muscle disease
    Van den Bergh, PYK
    Manto, MU
    Kubisch, C
    Schoser, BGH
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 649 - 649
  • [9] Caveolin-3 gene mutation in Japanese with rippling muscle disease
    Yabe, I
    Kawashima, A
    Kikuchi, S
    Higashi, T
    Fukazawa, T
    Hamada, T
    Sasaki, H
    Tashiro, K
    ACTA NEUROLOGICA SCANDINAVICA, 2003, 108 (01): : 47 - 51
  • [10] Mutation in the caveolin-3 gene causes asymmetrical distal myopathy
    Chen, Juanjuan
    Zeng, Wenshuang
    Han, Chunxi
    Wu, Jun
    Zhang, Haiou
    Tong, Xiaoxin
    NEUROPATHOLOGY, 2016, 36 (05) : 485 - 489
12345