PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

被引：52
作者：
Claeys, K. G. [1 ,2 ]
Maisonobe, T. [4 ]
Boehm, J. [5 ,6 ]
Laporte, J. [5 ,6 ]
Hezode, M.
Romero, N. B. [2 ,7 ,8 ]
Brochier, G.
Bitoun, M. [7 ,8 ]
Carlier, R. Y. [3 ,9 ]
Stojkovic, T. [2 ,7 ,8 ]
机构：
[1] Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, France
[2] Grp Hosp Pitie Salpetriere, Ctr Reference Neuromusculaire Paris Est, AP HP, F-75634 Paris, France
[3] Grp Hosp Pitie Salpetriere, Lab RMN AIM CEA, AP HP, F-75634 Paris, France
[4] Grp Hosp Pitie Salpetriere, Inst Myol, AP HP, Serv Neuropathol, F-75634 Paris, France
[5] Univ Strasbourg, INSERM, CNRS, Dept Neurobiol & Genet,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France
[6] Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France
[7] INSERM, U974, Paris, France
[8] Univ Paris 06, CNRS, UMR S974, UMR7215,IFR14,Inst Myol, Paris, France
[9] Hop Raymond Poincare, Serv Radiol, Garches, France
来源：
NEUROLOGY | 2010年 / 74卷 / 06期
关键词：
MYOTUBULAR MYOPATHY; DYNAMIN-2; FAMILY;
D O I：
10.1212/WNL.0b013e3181cef7f9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：519 / 521
页数：3
相关论文
共 45 条
  • [31] CASE REPORT OF A NOVEL MUTATION OF THE EYA1 GENE IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
    Spahiu, L.
    Merovci, B.
    Jaha, Ismaili, V
    Kepuska, Batalli A.
    Jashari, H.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2016, 19 (02) : 91 - 94
  • [32] A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
    Zhang, Yu
    Zhang, Guoyong
    Chen, Wenhui
    Pu, Zheng
    Song, Lu
    Tang, Xinghua
    Liu, Zhenguo
    GENES & DISEASES, 2021, 8 (05) : 709 - 714
  • [33] A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation
    Koppolu, Agnieszka A.
    Madej-Pilarczyk, Agnieszka
    Rydzanicz, Malgorzata
    Kosinska, Joanna
    Gasperowicz, Piotr
    Dorszewska, Jolanta
    Kozubski, Wojciech
    Steinborn, Barbara
    Kochanski, Andrzej M.
    Ploski, Rafal
    FOLIA NEUROPATHOLOGICA, 2017, 55 (03) : 214 - 220
  • [34] A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report
    Wang, Jing
    Zhu, Qian
    Liu, Hongqian
    MEDICINE, 2018, 97 (21)
  • [35] Cleft Palate and ADULT Phenotype in a Patient With a Novel TP63 Mutation Suggests Lumping of EEC/LM/ADULT Syndromes Into a Unique Entity: ELA Syndrome
    Prontera, Paolo
    Garelli, Emanuela
    Isidori, Ilenia
    Mencarelli, Amedea
    Carando, Adriana
    Silengo, Margherita Cirillo
    Donti, Emilio
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (11) : 2746 - 2749
  • [36] A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D
    Chen, Bin
    Niu, Songtao
    Chen, Na
    Pan, Hua
    Wang, Xingao
    Zhang, Zaiqiang
    JOURNAL OF CLINICAL NEUROSCIENCE, 2018, 53 : 231 - 234
  • [37] Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease
    Bocchi, Letizia
    Pisciotta, Livia
    Fasano, Tommaso
    Candini, Chiara
    Puntoni, Maria Rita
    Sampietro, Tiziana
    Bertolini, Stefano
    Calandra, Sebastiano
    CLINICA CHIMICA ACTA, 2010, 411 (7-8) : 524 - 530
  • [38] Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
    Gigante, Maddalena
    d'Altilia, Marilena
    Montemurno, Eustacchio
    Diella, Sterpeta
    Bruno, Francesca
    Netti, Giuseppe S.
    Ranieri, Elena
    Stallone, Giovanni
    Infante, Barbara
    Grandaliano, Giuseppe
    Gesualdo, Loreto
    BMC NEPHROLOGY, 2013, 14
  • [39] A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype
    Nam, Tai-Seung
    Li, Wenting
    Heo, Suk-Hee
    Lee, Kyung-Hwa
    Cho, Anna
    Shin, Jin-Hong
    Kim, Young Ok
    Chae, Jong-Hee
    Kim, Dae-Seong
    Kim, Myeong-Kyu
    Choi, Seok-Yong
    NEUROMUSCULAR DISORDERS, 2015, 25 (11) : 843 - 851
  • [40] Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma
    Pasutto, F.
    Mauri, L.
    Popp, B.
    Sticht, H.
    Ekici, A.
    Piozzi, E.
    Bonfante, A.
    Penco, S.
    Schloetzer-Schrehardt, U.
    Reis, A.
    GENE, 2015, 568 (01) : 76 - 80
12345