Diagnosis of X-linked myotubular myopathy by detection of the implicated protein (myotubularin), and genotype/phenotype correlation in mild cases.

被引:0
|
作者
Laporte, J [1 ]
Blondeau, F [1 ]
Buj-Bello, A [1 ]
Kretz, C [1 ]
Mandel, JI [1 ]
机构
[1] ULP, Inst Genet & Biol Mol & Cellulaire, CNRS, INSERM, F-67404 Illkirch, France
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
1727
引用
收藏
页码:A307 / A307
页数:1
相关论文
共 50 条
  • [31] Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy
    Beggs, A. H.
    Jamet, T.
    Joubert, R.
    Furth, M. E.
    Holder, M. N.
    Grange, R. W.
    Lawlor, M. W.
    Viola, M.
    Poulard, K.
    Masurier, C.
    Martin, S.
    Riviere, C.
    Poppante, K.
    Soker, T.
    Hammer, C.
    Vignaud, A.
    Van Wittenberghe, L.
    Messaddeq, N.
    Guan, X.
    Goddard, M.
    Mitchell, E.
    Barber, J.
    Daniele, N.
    Widrick, J. J.
    Pierson, C. R.
    Moullier, P.
    Armstrong, D.
    Childers, M. K.
    Buj-Bello, A.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 907 - 907
  • [32] Genotype/phenotype correlation in x-linked agammaglobulinemia: one mutation at a time
    Byrne, A.
    Stewart, L.
    Ochs, H.
    Dragone, L.
    Gelfand, E.
    ALLERGY, 2011, 66 : 476 - 476
  • [33] Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient mice
    Shichiji, M.
    Biancalana, V.
    Fardeau, M.
    Laporte, J.
    Romero, N. B.
    NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 692 - 692
  • [34] X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis
    Lopez Ubeda, Marta
    de Arriba Munoz, Antonio
    Ferrer Lozano, Marta
    Labarta Aizpun, Jose I.
    Garcia Jimenez, Maria C.
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2017, 115 (05): : E279 - E281
  • [35] AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta
    Wang, Shih-Kai
    Zhang, Hong
    Lin, Hua-Chieh
    Wang, Yin-Lin
    Lin, Shu-Chun
    Seymen, Figen
    Koruyucu, Mine
    Simmer, James P.
    Hu, Jan C. -C.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (11)
  • [36] Genotype-Phenotype Correlation in Boys With X-Linked Hypohidrotic Ectodermal Dysplasia
    Burger, Kristin
    Schneider, Anne-Theres
    Wohlfart, Sigrun
    Kiesewetter, Franklin
    Huttner, Kenneth
    Johnson, Ramsey
    Schneider, Holm
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (10) : 2424 - 2432
  • [37] Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy
    Buj-Bello, A
    Biancalana, V
    Moutou, C
    Laporte, J
    Mandel, JL
    HUMAN MUTATION, 1999, 14 (04) : 320 - 325
  • [38] miRNA-mediated restriction of myotubularin expression to the skeletal muscle corrects pathology and prevents cardiac toxicity in a murine model of X-linked myotubular myopathy
    Joubert, R.
    Buscara, L.
    Moal, C.
    Poulard, K.
    Vignaud, A.
    Martin, S.
    Mavilio, F.
    Buj-Bello, A.
    HUMAN GENE THERAPY, 2013, 24 (12) : A118 - A118
  • [39] Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients
    Yadav, Reetika Malik
    Desai, Sneha Sawant
    Gupta, Maya
    Dalvi, Aparna
    Bargir, Umair Ahmad
    Jodhawat, Neha
    Setia, Priyanka
    Shinde, Shweta
    Parab, Ankita
    Gada, Ashita
    Taur, Prasad
    Desai, Mukesh
    Madkaikar, Manisha
    INDIAN JOURNAL OF PEDIATRICS, 2024, 91 (06): : 638 - 638
  • [40] Correlating phenotype with protein secretion profile based on genotype in X-linked Retinoschisis
    Raman, Rajiv
    Pandian, Jayamuruga
    Neriyanuri, Srividya
    Sudha, D.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)