(Q79108265)

English

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

scientific article published on 01 January 2004

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scholarly article

1 reference

Europe PubMed Central

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19 December 2019

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation (English)

1 reference

Europe PubMed Central

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19 December 2019

1 reference

based on heuristic

inferred from title

limb-girdle muscular dystrophy

1 reference

based on heuristic

inferred from title

6

1 reference

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19 December 2019

author name string

Tamar Harel

1

1 reference

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19 December 2019

Yael Goldberg

2

1 reference

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19 December 2019

Stavit A Shalev

3

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19 December 2019

Ilana Chervinski

4

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19 December 2019

Rivka Ofir

5

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19 December 2019

publication date

1 January 2004

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19 December 2019

European Journal of Human Genetics

1 reference

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19 December 2019

12

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19 December 2019

1

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19 December 2019

38-43

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19 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201087

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional requirements for fukutin-related protein in the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Defective glycosylation in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201087

7 January 2021

based on heuristic

inferred from DOI database lookup

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