Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort (Q36676080)

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23 February 2020

title

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort (English)

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23 February 2020

main subject

centronuclear myopathy

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18

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23 February 2020

Fabiana Fattori

2

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23 February 2020

Lorenzo Maggi

5

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23 February 2020

Giorgio Tasca

6

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23 February 2020

Chiara Fiorillo

7

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23 February 2020

Angela Berardinelli

9

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23 February 2020

Cinzia Bragato

11

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23 February 2020

Marina Mora

12

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23 February 2020

Lucio Santoro

15

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23 February 2020

Eugenio Mercuri

17

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23 February 2020

Adele D'Amico

19

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23 February 2020

author name string

Michela Catteruccia

1

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23 February 2020

Valentina Codemo

3

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23 February 2020

Lucia Ruggiero

4

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23 February 2020

Marika Pane

8

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23 February 2020

Margherita Verardo

10

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23 February 2020

Lucia Morandi

13

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23 February 2020

Claudio Bruno

14

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23 February 2020

Elena Pegoraro

16

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23 February 2020

publication date

8 February 2013

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23 February 2020

published in

Neuromuscular Disorders

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23 February 2020

volume

23

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23 February 2020

issue

3

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23 February 2020

page(s)

229-238

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

23 February 2020

cites work

1 reference

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Muscle imaging in congenital myopathies

30 September 2017

1 reference

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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

30 September 2017

1 reference

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Centronuclear myopathies: a widening concept

30 September 2017

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

30 September 2017

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30 September 2017

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

30 September 2017

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

30 September 2017

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Mutations in dynamin 2 cause dominant centronuclear myopathy

30 September 2017

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

30 September 2017

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Clinical and histologic findings in autosomal centronuclear myopathy

30 September 2017

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The stalk region of dynamin drives the constriction of dynamin tubes

30 September 2017

1 reference

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Germline mosaicism in X-linked myotubular myopathy

30 September 2017

1 reference

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Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

30 September 2017

1 reference

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

30 September 2017

1 reference

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Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

30 September 2017

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A model for dynamin self-assembly based on binding between three different protein domains

28 June 2018

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Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

28 June 2018

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Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

20 September 2018

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

20 September 2018

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Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

20 September 2018

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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

20 September 2018

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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

20 September 2018

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Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

20 September 2018

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20 September 2018

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

20 September 2018

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4 December 2018

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12 December 2020

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

1 reference

12 December 2020

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

1 reference

12 December 2020

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

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12 December 2020

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

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12 December 2020

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

1 reference

12 December 2020

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

1 reference

12 December 2020

10.1016/J.NMD.2012.12.009

Identifiers

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23 February 2020

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23 February 2020

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