scholarly journals Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy

2021 ◽  
Author(s):  
Kenshiro Fujise ◽  
Mariko Okubo ◽  
Tadashi Abe ◽  
Hiroshi Yamada ◽  
Kohji Takei ◽  
...  
Keyword(s):  
Centronuclear Myopathy

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

Centronuclear myopathy: Disease entity or a syndrome?

1972 ◽  
Vol 16 (2) ◽  
pp. 215-228 ◽  
Author(s):  
S.S. Schochet ◽  
H. Zellweger ◽  
V. Ionasescu ◽  
W.F. McCormick
Keyword(s):  
Centronuclear Myopathy ◽  
Disease Entity

scholarly journals Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype

2015 ◽  
Vol 8 (8) ◽  
pp. 999-1009 ◽  
Author(s):  
V. A. Fajardo ◽  
E. Bombardier ◽  
E. McMillan ◽  
K. Tran ◽  
B. J. Wadsworth ◽  
...  
Keyword(s):  
Centronuclear Myopathy

Centronuclear Myopathy with Unusual Clinical Picture

1987 ◽  
Vol 26 (3) ◽  
pp. 153-160 ◽  
Author(s):  
Grazia Lovaste ◽  
Daniela Aldovini ◽  
Giuseppe Ferrari
Keyword(s):  
Clinical Picture ◽  
Centronuclear Myopathy

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

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

2011 ◽  
Vol 258 (6) ◽  
pp. 1085-1090 ◽  
Author(s):  
F. Hanisch ◽  
T. Müller ◽  
A. Dietz ◽  
M. Bitoun ◽  
W. Kress ◽  
...  
Keyword(s):  
Centronuclear Myopathy ◽  
Histopathological Findings ◽  
Phenotype Variability

scholarly journals Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46408 ◽  
Author(s):  
Marie Maurer ◽  
Jérôme Mary ◽  
Laurent Guillaud ◽  
Marilyn Fender ◽  
Manuel Pelé ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Centronuclear Myopathy ◽  
Labrador Retrievers
Sign in / Sign up

Export Citation Format

Share Document