rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.
|
25501959 |
2015 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
|
26199319 |
2015 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
|
25957634 |
2015 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
|
26273216 |
2015 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.
|
24465259 |
2014 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
|
25262827 |
2014 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
|
23338057 |
2013 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
|
23394783 |
2013 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
|
22613877 |
2012 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
|
20927630 |
2011 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Common membrane trafficking defects of disease-associated dynamin 2 mutations.
|
21762456 |
2011 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.
|
21221624 |
2011 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.
|
20529869 |
2010 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.
|
19130742 |
2009 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
|
17008356 |
2006 |
rs121909092
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in dynamin 2 cause dominant centronuclear myopathy.
|
16227997 |
2005 |