Mutations in dynamin 2 cause dominant centronuclear myopathy

@article{Bitoun2005MutationsID,
  title={Mutations in dynamin 2 cause dominant centronuclear myopathy},
  author={Marc Bitoun and Svetlana Maugenre and P. Y. Jeannet and Emmanuelle Lac{\`e}ne and Xavier Ferrer and Pascal Lafor{\^e}t and Jean-Jacques Martin and Jocelyn Laporte and Hanns Lochm{\"u}ller and Alan H. Beggs and Michel Gustave Jules Fardeau and Bruno Eymard and Norma Beatriz Romero and Pascale Guicheney},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={1207-1209}
}
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion. The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might… Expand
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
TLDR
Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear Myopathy. Expand
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.
TLDR
A Dutch family with AD CNM due to a novel BIN1 mutation strongly impairing the membrane tubulation activity of amphiphysin-2 was reported, with the main features being mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass. Expand
Dynamin 2 the rescue for centronuclear myopathy.
TLDR
DNM2 regulates membrane trafficking through vesicular scission, and it is presumed that reducing this activity accounts for improved outcome in X-linked centronuclear myopathy. Expand
Large duplication in MTM1 associated with myotubular myopathy
TLDR
This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when M TM1 sequencing is unrevealing. Expand
RYR1 mutations are a common cause of congenital myopathies with central nuclei
TLDR
This work investigated whether RYR1 mutations cause CNM, a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy that has been associated with mutations in MTM1, DNM2, and BIN1. Expand
Centronuclear myopathies.
TLDR
A possible dysfunction of the T-tubule system in CNM is highlighted and the 3 CNM genes are involved in membrane remodeling and membrane trafficking, and impairment of these processes could be a common CNM pathomechanism. Expand
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
TLDR
The findings suggest that complex rearrangements have to be considered in typically affected males with X-linked myotubular myopathy. Expand
Adult- Onset Centronuclear Myopathy.
TLDR
A 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life without any family history of such illness is reported. Expand
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
TLDR
It is suggested that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that D NM2 mutations may alter cerebral function and the role of DNM2 mutations in the central nervous system should be further studied. Expand
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
TLDR
It is concluded that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum and should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distalMyopathy. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 14 REFERENCES
Clinical and histologic findings in autosomal centronuclear myopathy
TLDR
The classification reported in this study will be useful for the diagnosis and the follow-up evaluation of patients with autosomal CNM and for the research into the molecular defects underlying the condition. Expand
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant,Expand
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
TLDR
An analysis of the myotubularin family in sequenced genomes finds that phosphoinositides are signaling molecules that are notably involved in vacuolar transport and membrane trafficking and are proposed to be implicated in these cellular mechanisms. Expand
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.
TLDR
Clinical, pathological, cytochemical, and electron microscopic studies of gastrocnemius muscle disease are presented and an attempt will also be made to correlate these findings with previously reported studies in myogenesis. Expand
Dynamin 2 binds γ-tubulin and participates in centrosome cohesion
TLDR
Fluorescence recovery after photobleaching (FRAP) analysis of a GFP-tagged Dyn2 middle domain indicated that Dyn2 is a dynamic exchangeable component of the centrosome, suggesting a novel function for Dyn2 as a participant in Centrosome cohesion. Expand
The dynamin superfamily: universal membrane tubulation and fission molecules?
TLDR
It is proposed that a common mechanism leading to membrane tubulation and/or fission could encompass their many varied functions. Expand
Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.
TLDR
Results indicate that dynamin proteins are encoded by at least two genes expressed differentially in mammalian tissues and that the expression of Dyn2, and not of brain dynamin, accounts for the ubiquitous distribution of dynamin in rat tissues. Expand
Fate of microtubule-organizing centers during myogenesis in vitro
TLDR
In myoblasts, the authors observed a classical microtubule network centered on juxtanuclear centrosomes, and in myotubes, this phenomenon appears to be specific to myogenic differentiation. Expand
Dynamin II interacts with syndecan-4, a regulator of focal adhesion and stress-fiber formation.
TLDR
The interaction between dynamin II and syndecan-4 is important in mediating focal adhesion and stress-fiber formation in fibroblasts that have been stimulated to form the focal adhesions and stress fibers with LPA. Expand
The stalk region of dynamin drives the constriction of dynamin tubes
TLDR
The nonconstricted state of mutant dynamin is solved by a single-particle approach and it is shown that the stalk region of dynamin undergoes a large conformational change that drives tube constriction. Expand
...
1
2
...