LGMD2I in a North American population (Q33307069)

25 July 2017

title

LGMD2I in a North American population (English)

1 reference

25 July 2017

Basil T Darras

6

0 references

author name string

Peter B Kang

1

1 reference

25 July 2017

Chris A Feener

2

1 reference

25 July 2017

Elicia Estrella

3

1 reference

25 July 2017

Marielle Thorne

4

1 reference

25 July 2017

Alexander J White

5

1 reference

25 July 2017

Anthony A Amato

7

1 reference

25 July 2017

Louis M Kunkel

8

1 reference

25 July 2017

publication date

24 November 2007

1 reference

BMC Musculoskeletal Disorders

25 July 2017

published in

1 reference

25 July 2017

volume

8

1 reference

25 July 2017

page(s)

115

1 reference

Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.

25 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

Subcellular localization of fukutin and fukutin-related protein in muscle cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

Functional requirements for fukutin-related protein in the Golgi apparatus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2216011

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-8-115

Limb-girdle muscular dystrophy in the United States

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18036232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18036232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2474-8-115

1 reference

Dimensions Publication ID

25 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2474-8-115

9 September 2019

1 reference

25 July 2017

1 reference