A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. (Q45059320)

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scientific article published in December 2004

Language	Label	Description	Also known as
English	A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.	scientific article published in December 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

autosomal dominant limb-girdle muscular dystrophy

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5

object named as

Mayana Zatz

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Europe PubMed Central

PubMed publication ID

9 December 2017

object named as

Mariz Vainzof

4

0 references

Maria Rita Passos-Bueno

3

object named as

Maria Rita Passos-Bueno

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Europe PubMed Central

PubMed publication ID

9 December 2017

author name string

Alessandra Starling

1

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Fernando Kok

2

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Europe PubMed Central

PubMed publication ID

9 December 2017

publication date

1 December 2004

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

9 December 2017

12

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Europe PubMed Central

PubMed publication ID

9 December 2017

12

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Europe PubMed Central

PubMed publication ID

9 December 2017

1033-1040

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Europe PubMed Central

PubMed publication ID

9 December 2017

Limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

The 10 autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Caveolin-3 in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Dysferlin is a plasma membrane protein and is expressed early in human development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Telethonin protein expression in neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

myotilin Mutation found in second pedigree with LGMD1A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

21 January 2018

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201289

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.5201289

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201289

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

ResearchGate publication ID

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