(Q24517965)

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A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

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Europe PubMed Central

PubMed publication ID

2 July 2017

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

limb-girdle muscular dystrophy

1 reference

based on heuristic

inferred from title

5

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M Zatz

author given names

M

author last names

Zatz

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PubMed publication ID

2 July 2017

Maria Rita Passos-Bueno

6

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M R Passos-Bueno

author given names

M R

author last names

Passos-Bueno

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

author name string

E S Moreira

1

author given names

E S

author last names

Moreira

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

M Vainzof

2

author given names

M

author last names

Vainzof

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

S K Marie

3

author given names

S K

author last names

Marie

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

V Nigro

4

author given names

V

author last names

Nigro

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Europe PubMed Central

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2 July 2017

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publication date

1 November 1998

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

2 July 2017

35

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Europe PubMed Central

PubMed publication ID

2 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

951-953

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

24 March 2017

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

27 September 2017

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

27 September 2017

Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

27 September 2017

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051491

29 November 2018

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/9832045

12 December 2020

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Identifiers

10.1136/JMG.35.11.951

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

release_vltga7toeze55izgkuvpy4xj5u

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

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