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

C.P.9 A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres

2012 ◽  
Vol 22 (9-10) ◽  
pp. 843
Author(s):  
O. Casar-Borota ◽  
J. Jacobsson ◽  
R. Libelius ◽  
A.R. Moslemi ◽  
C. Hedberg ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Presentation ◽  
Late Onset ◽  
Centronuclear Myopathy ◽  
Dynamin 2

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy

2013 ◽  
Vol 23 (3) ◽  
pp. 219-228 ◽  
Author(s):  
Biruta Kierdaszuk ◽  
Mariusz Berdynski ◽  
Justyna Karolczak ◽  
Maria Jolanta Redowicz ◽  
Cezary Zekanowski ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Late Onset ◽  
Novel Mutation ◽  
Centronuclear Myopathy ◽  
Dynamin 2

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

2007 ◽  
Vol 17 (11-12) ◽  
pp. 955-959 ◽  
Author(s):  
Andoni Echaniz-Laguna ◽  
Anne-Sophie Nicot ◽  
Sophie Carré ◽  
Jérôme Franques ◽  
Christine Tranchant ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Gene Mutation ◽  
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 Membrane metalloendopeptidase (MME) gene mutation associated type 2t late-onset Charcot-Marie-Tooth disease: Case report

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marcos RG de Freitas ◽  
Marco Orsini ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Late Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Case ◽  
Tooth Disease

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

The homozygous p.C1024R-ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan

2012 ◽  
Vol 107 (05) ◽  
pp. 1003-1005 ◽  
Author(s):  
Fumihiro Taguchi ◽  
Hideo Yagi ◽  
Masanori Matsumoto ◽  
Shingo Sadamura ◽  
Ayami Isonishi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset

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

Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities

2020 ◽  
Vol 41 (6) ◽  
pp. 639-644
Author(s):  
Angela C. Chen ◽  
Duangratn Niruthisard ◽  
Doug D. Chung ◽  
Pichaya Chuephanich ◽  
Anthony J. Aldave
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
I Gene

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

2019 ◽  
Vol 40 (6) ◽  
pp. 1267-1269 ◽  
Author(s):  
Daniele Cazzato ◽  
Eleonora Dalla Bella ◽  
Paola Saveri ◽  
Franco Taroni ◽  
Gianluca Marucci ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset
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