Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide (Q34447103)

2 August 2017

title

Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide (English)

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2 August 2017

main subject

centronuclear myopathy

1 reference

Marie Maurer

1

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Inès Barthélémy

Inès Barthélémy

12

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Laurent Tiret

Laurent Tiret

16

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Stéphane Blot

Stéphane Blot

14

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Jean-Jacques Panthier

Jean-Jacques Panthier

10

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author name string

Jérôme Mary

2

1 reference

2 August 2017

Laurent Guillaud

3

1 reference

2 August 2017

Marilyn Fender

4

1 reference

2 August 2017

Manuel Pelé

5

1 reference

2 August 2017

Thomas Bilzer

6

1 reference

2 August 2017

Natasha Olby

7

1 reference

2 August 2017

Jacques Penderis

8

1 reference

2 August 2017

G Diane Shelton

9

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2 August 2017

Jean-Laurent Thibaud

11

1 reference

2 August 2017

Geneviève Aubin-Houzelstein

13

1 reference

2 August 2017

Christophe Hitte

15

1 reference

2 August 2017

language of work or name

English

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publication date

5 October 2012

1 reference

2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

10

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2 August 2017

page(s)

e46408

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

5 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Centronuclear myopathies

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Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

6 July 2018

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

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6 July 2018

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6 July 2018

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Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis

6 July 2018

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Membrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation

6 July 2018

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Membrane traffic and muscle: lessons from human disease

6 July 2018

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6 July 2018

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

6 July 2018

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A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

6 July 2018

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Mutations in dynamin 2 cause dominant centronuclear myopathy

6 July 2018

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6 July 2018

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Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

6 July 2018

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Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers

6 July 2018

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Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

27 October 2018

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The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.

27 October 2018

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27 October 2018

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[Frequency of gene defects in selected European retriever populations].

27 October 2018

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12 December 2020

Generalised muscle weakness in the Labrador retriever

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12 December 2020

Hereditary myopathy in Labrador retrievers: a morphologic study

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12 December 2020

Myopathy in a Labrador retriever

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12 December 2020

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

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12 December 2020

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

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12 December 2020

10.1371/JOURNAL.PONE.0046408

Identifiers

DOI

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2 August 2017

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2 August 2017

1 reference