Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

2007 ◽  
Vol 39 (9) ◽  
pp. 1134-1139 ◽  
Author(s):  
Anne-Sophie Nicot ◽  
Anne Toussaint ◽  
Valérie Tosch ◽  
Christine Kretz ◽  
Carina Wallgren-Pettersson ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Dynamin 2

Phenotype characterization in patients with dynamin 2 related centronuclear myopathy

2010 ◽  
Vol 41 (01) ◽  
Author(s):  
F Hanisch ◽  
A Dietz ◽  
T Grimm ◽  
M Bitoun ◽  
S Zierz
Keyword(s):  
Centronuclear Myopathy ◽  
Phenotype Characterization ◽  
Dynamin 2

scholarly journals SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs

2005 ◽  
Vol 14 (11) ◽  
pp. 1417-1427 ◽  
Author(s):  
Manuel Pelé ◽  
Laurent Tiret ◽  
Jean-Louis Kessler ◽  
Stéphane Blot ◽  
Jean-Jacques Panthier
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Splicing Defects

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

2015 ◽  
Vol 25 (4) ◽  
pp. 345-348 ◽  
Author(s):  
Olivera Casar-Borota ◽  
Johan Jacobsson ◽  
Rolf Libelius ◽  
Carola Hedberg Oldfors ◽  
Edoardo Malfatti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

2020 ◽  
Vol 133 (24) ◽  
pp. 3023-3024
Author(s):  
Xiao Huang ◽  
Xiang-Yi Liu ◽  
Lu Chen ◽  
A-Ping Sun ◽  
Ying-Shuang Zhang ◽  
...  
Keyword(s):  
De Novo ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Anaïs Fongy ◽  
Sestina Falcone ◽  
Jeanne Lainé ◽  
Bernard Prudhon ◽  
Aurea Martins-Bach ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mouse Model ◽  
Centronuclear Myopathy ◽  
Dynamin 2

C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 881-882 ◽  
Author(s):  
L. Pirra ◽  
A. Dubrovsky ◽  
M. Bitoun ◽  
P. Guicheney ◽  
N. Romero ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Mutations Associated with Centronuclear Myopathy (CNM) Enhance the Size and Stability of Dynamin 2 Clusters in Cells

2013 ◽  
Vol 104 (2) ◽  
pp. 618a
Author(s):  
Nicholas G. James ◽  
Michelle A. Digman ◽  
Justin A. Ross ◽  
Barbara Barylko ◽  
Lei Wang ◽  
...  
Keyword(s):  
Centronuclear Myopathy ◽  
Dynamin 2 ◽  
In Cells

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

2012 ◽  
Vol 114 (6) ◽  
pp. 678-683 ◽  
Author(s):  
Madoka Mori-Yoshimura ◽  
Aya Okuma ◽  
Yasushi Oya ◽  
Chieko Fujimura-Kiyono ◽  
Hideto Nakajima ◽  
...  
Keyword(s):  
Clinicopathological Features ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

2017 ◽  
Vol 10 (2) ◽  
pp. 239-253 ◽  
Author(s):  
Delphine Trochet ◽  
Bernard Prudhon ◽  
Maud Beuvin ◽  
Cécile Peccate ◽  
Stéphanie Lorain ◽  
...  
Keyword(s):  
Centronuclear Myopathy ◽  
Allele Specific ◽  
Dynamin 2
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