C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy (Q48080069)

8 February 2018

title

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy (English)

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8 February 2018

early-onset myopathy with fatal cardiomyopathy

main subject

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author

Mustafa A. Salih

2

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8 February 2018

Pascale Guicheney

9

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Michel Fardeau

12

Michel Fardeau

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Brigitte Estournet

15

Brigitte Estournet

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8 February 2018

Ana Ferreiro

16

Ana Ferreiro

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8 February 2018

Susana Quijano-Roy

3

Susana Quijano-Roy

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8 February 2018

author name string

Virginie Carmignac

1

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Sylvie Marchand

4

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Molham M Al Rayess

5

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Maowia M Mukhtar

6

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Jon A Urtizberea

7

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Siegfried Labeit

8

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France Leturcq

10

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Mathias Gautel

11

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Kevin P Campbell

13

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Isabelle Richard

14

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publication date

1 April 2007

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8 February 2018

published in

Annals of Neurology

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8 February 2018

volume

61

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8 February 2018

issue

4

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8 February 2018

page(s)

340-351

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8 February 2018

The congenital muscular dystrophies in 2004: a century of exciting progress

cites work

1 reference

What's new in neuromuscular disorders? The congenital myopathies

21 January 2018

1 reference

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

1 reference

Titins: giant proteins in charge of muscle ultrastructure and elasticity

21 January 2018

1 reference

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

21 January 2018

1 reference

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

21 January 2018

1 reference

Titin mutations as the molecular basis for dilated cardiomyopathy

21 January 2018

1 reference

The kinase domain of titin controls muscle gene expression and protein turnover

21 January 2018

1 reference

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

Tibial muscular dystrophy in a Belgian family

21 January 2018

1 reference

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure

21 January 2018

1 reference

Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd).

21 January 2018

1 reference

The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

21 January 2018

1 reference

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

21 January 2018

1 reference

Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms.

21 January 2018

1 reference

Muscle assembly: a titanic achievement?

21 January 2018

1 reference

A targeted deletion of the C-terminal end of titin, including the titin kinase domain, impairs myofibrillogenesis.

21 January 2018

1 reference

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

21 January 2018

1 reference

The spectrum of pathology in central core disease

21 January 2018

1 reference

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

21 January 2018

1 reference

Elastic behavior of connectin filaments during thick filament movement in activated skeletal muscle

21 January 2018

1 reference

M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere

21 January 2018

1 reference

Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation

21 January 2018

1 reference

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

21 January 2018

1 reference

The assembly of immunoglobulin-like modules in titin: implications for muscle elasticity

21 January 2018

1 reference

Muscle atrophy in Titin M-line deficient mice

21 January 2018

1 reference

PEVK Domain of Titin: An Entropic Spring with Actin-Binding Properties

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.21089

1 reference

8 February 2018

release_xdscgygcabeivlkmkbyzve5sce

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/xdscgygcabeivlkmkbyzve5sce

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

8 February 2018