A Novel Mutation Associated with Severe Centronuclear Myopathy in a Neonate

被引：0
|
作者：
Gangadaran, Prabakaran [1 ]
Choudhary, Sushil [1 ]
机构：
[1] All India Inst Med Sci, Dept Neonatol, Jodhpur, Rajasthan, India
来源：
NEUROLOGY INDIA | 2024年 / 72卷 / 06期
关键词：
D O I：
10.4103/neurol-india.Neurol-India-D-24-00347
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
引用
收藏
页码：1299 / 1300
页数：2
相关论文
共 50 条
  • [31] Centronuclear (myotubular) myopathy
    Jungbluth, Heinz
    Wallgren-Pettersson, Carina
    Laporte, Jocelyn
    ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)
  • [32] CENTRONUCLEAR (MYOTUBULAR) MYOPATHY
    MUNSAT, TL
    THOMPSON, LR
    COLEMAN, RF
    ARCHIVES OF NEUROLOGY, 1969, 20 (02) : 120 - &
  • [33] CASE OF CENTRONUCLEAR MYOPATHY
    LOLOVA, I
    BOJINOVA, T
    KILIMOV, N
    GERCHEV, A
    ZEITSCHRIFT FUR NEUROLOGIE, 1973, 205 (01): : 83 - 90
  • [34] MYOTUBULAR CENTRONUCLEAR OR PERI-CENTRONUCLEAR MYOPATHY
    CAMPBELL, MJ
    REBEIZ, JJ
    WALTON, JN
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1969, 8 (03) : 425 - &
  • [35] A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
    Boutaina Zemrani
    François Cachat
    Olivier Bonny
    Eric Giannoni
    Jacques Durig
    Florence Fellmann
    Hassib Chehade
    European Journal of Medical Research, 21
  • [36] Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene
    Jungbluth, H.
    Cullup, T.
    Lillis, S.
    Zhou, H.
    Sewry, C.
    Abbs, S.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 636 - 636
  • [37] A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report
    Dudzik, Aleksandra
    Nedza, Weronika
    Konska, Katarzyna
    Starzec, Katarzyna
    Tomasik, Tomasz
    Grudzien, Andrzej
    Jagla, Mateusz
    Durlak, Wojciech
    Kwinta, Przemko
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2021, 22 (01)
  • [38] A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
    Zemrani, Boutaina
    Cachat, Francois
    Bonny, Olivier
    Giannoni, Eric
    Durig, Jacques
    Fellmann, Florence
    Chehade, Hassib
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2016, 21
  • [39] FAMILIAL CENTRONUCLEAR MYOPATHY
    PAVONE, L
    MOLLICA, F
    GRASSO, A
    PERO, G
    ACTA NEUROLOGICA SCANDINAVICA, 1980, 62 (01): : 33 - 40
  • [40] A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
    Cabrera-Serrano, Macarena
    Mavillard, Fabiola
    Biancalana, Valerie
    Rivas, Eloy
    Morar, Bharti
    Hernandez-Lain, Aurelio
    Olive, Montse
    Muelas, Nuria
    Khan, Eduardo
    Carvajal, Alejandra
    Quiroga, Pablo
    Diaz-Manera, Jordi
    Davis, Mark
    Avila, Rainiero
    Dominguez, Cristina
    Romero, Norma Beatriz
    Vilchez, Juan J.
    Comas, David
    Laing, Nigel G.
    Laporte, Jocelyn
    Kalaydjieva, Luba
    Paradas, Carmen
    NEUROLOGY, 2018, 91 (04) : E339 - E348
12345