scholarly journals Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy

2016 ◽  
Vol 13 (5) ◽  
pp. 4273-4278
Author(s):  
XINHONG LIU ◽  
HUAMIN WU ◽  
JIAN GONG ◽  
TAO WANG ◽  
CHUANZHU YAN
Keyword(s):  
Autosomal Dominant ◽  
Centronuclear Myopathy ◽  
Genetic Characteristics ◽  
Dynamin 2

scholarly journals Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

2012 ◽  
Vol 33 (6) ◽  
pp. 949-959 ◽  
Author(s):  
Johann Böhm ◽  
Valérie Biancalana ◽  
Elizabeth T. DeChene ◽  
Marc Bitoun ◽  
Christopher R. Pierson ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Mutation Spectrum ◽  
Centronuclear Myopathy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
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

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

Autosomal dominant spastic paraplegia in four generations of Yakut family linked to dynamin 2 mutation

2020 ◽  
pp. 6-12
Author(s):  
T.M. Sivtseva ◽  
L.G. Goldfarb ◽  
T.K. Davydova ◽  
N. Sambuugin ◽  
K. Toro ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
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 Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Hyunsuk Kim ◽  
Hayne Cho Park ◽  
Hyunjin Ryu ◽  
Hyunho Kim ◽  
Hyun-Seob Lee ◽  
...  
Keyword(s):  
Renal Function ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Kidney Volume ◽  
Polycystic Kidney ◽  
Genetic Characteristics ◽  
Targeted Exome Sequencing ◽  
Autosomal Dominant Polycystic Kidney

AbstractAutosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefore, this study aimed to demonstrate the genetic characteristics of ADPKD and their effects on renal function in 749 Korean ADPKD subjects from 524 unrelated families. Genetic studies of PKD1/2 were performed using targeted exome sequencing combined with Sanger sequencing in exon 1 of the PKD1 gene and a multiple ligation probe assay. The mutation detection rate was 80.7% (423/524 families, 331 mutations) and 70.7% was novel. PKD1 protein-truncating (PKD1-PT) genotype was associated with younger age at diagnosis, larger kidney volume, lower renal function compared to PKD1 non-truncating and PKD2 genotypes. The PKD1 genotype showed earlier onset of ESRD compared to PKD2 genotype (64.9 vs. 72.9 years old, P < 0.001). In frailty model controlled for age, gender, and familial clustering effect, PKD2 genotype had 0.2 times lower risk for reaching ESRD than PKD1-PT genotype (p = 0.037). In conclusion, our results suggest that genotyping can contribute to selecting rapid progressors for new emerging therapeutic interventions among Koreans.

Sign in / Sign up

Export Citation Format

Share Document