A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy-Reference-Cited by-同舟云学术

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

Published:2013-03 Issue:3 Volume:23 Page:219-228
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kierdaszuk Biruta,Berdynski Mariusz,Karolczak Justyna,Redowicz Maria Jolanta,Zekanowski Cezary,Kaminska Anna M.

Funder

Ministry of Science and Higher Education

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference37 articles.

1. Centronuclear (myotubular) myopathy;Jungbluth;Orphanet J Rare Dis,2008

2. Centronuclear myopathies: a widening concept;Romero;Neuromuscul Disord,2010

3. Expression and purification of dynamin II domains and initial studies on structure and function;Dong;Protein Expr Purif,2000

4. Domain structure and function of dynamin probed by limited proteolysis;Muhlberg;Methods,2000

5. Differential distribution of dynamin isoforms in mammalian cells;Cao;Mol Biol Cell,1998

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1. La myopathie centronucléaire liée au gène de la dynamine 2;médecine/sciences;2023-11

2. Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues;Current Opinion in Cell Biology;2023-04

3. The Relationship between Mutations in Gene-Specific Domains of Salivary Fibronectin (cFn) and Dynamin-2 (Dynm-2) and the Development of Porphyromonas gingivalis-Initiated Periodontitis;Journal of Molecular Pathology;2022-09-08

4. Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants;International Journal of Molecular Sciences;2022-06-03

5. Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy;Molecular Therapy - Nucleic Acids;2022-03

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