(Q36992611)

17 August 2017

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient (English)

1 reference

17 August 2017

1 reference

Montse Olivé

1

1 reference

17 August 2017

Alexey Shatunov

2

1 reference

17 August 2017

Laura Gonzalez

3

1 reference

17 August 2017

Olga Carmona

4

1 reference

17 August 2017

Dolores Moreno

5

1 reference

17 August 2017

Lidia Gonzalez Quereda

6

1 reference

17 August 2017

J A Martinez-Matos

7

1 reference

17 August 2017

Lev G Goldfarb

8

1 reference

17 August 2017

Isidro Ferrer

9

1 reference

17 August 2017

22 October 2008

1 reference

17 August 2017

Neuromuscular Disorders

1 reference

17 August 2017

18

1 reference

17 August 2017

12

1 reference

17 August 2017

929-933

1 reference

TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

A mutation in telethonin alters Nav1.5 function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Telethonin protein expression in neuromuscular disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

The novel sarcomeric protein telethonin exhibits developmental and functional regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2592511

Limb-girdle muscular dystrophy in the United States

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18948002

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18948002

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NMD.2008.07.009

1 reference

17 August 2017

1 reference

17 August 2017

1 reference