Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I (Q33820866)

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6 February 2020

title

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I (English)

1 reference

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limb-girdle muscular dystrophy

6 February 2020

main subject

pathology

0 references

1 reference

1

1 reference

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6 February 2020

Anne Connolly

2

1 reference

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6 February 2020

Steven A Moore

5

1 reference

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6 February 2020

author name string

Thomas L Winder

3

1 reference

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6 February 2020

Alan Pestronk

4

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6 February 2020

publication date

1 November 2009

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6 February 2020

1 reference

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6 February 2020

volume

40

1 reference

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6 February 2020

issue

5

1 reference

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6 February 2020

page(s)

883-889

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Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862182

Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19705481

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/19705481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MUS.21432

1 reference

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6 February 2020

1 reference

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6 February 2020

PubMed publication ID

19705481

1 reference