(Q43903579)

27 November 2017

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population (English)

1 reference

autosomal recessive limb-girdle muscular dystrophy

27 November 2017

0 references

6

Zatz M

1 reference

ORCID Public Data File 2021

27 November 2017

1 reference

author name string

Vainzof M

1

1 reference

27 November 2017

Passos-Bueno MR

2

1 reference

27 November 2017

Pavanello RC

3

1 reference

27 November 2017

Marie SK

4

1 reference

27 November 2017

Oliveira AS

5

1 reference

27 November 2017

language of work or name

1 reference

1 March 1999

1 reference

Journal of the Neurological Sciences

27 November 2017

1 reference

27 November 2017

164

1 reference

27 November 2017

1

1 reference

27 November 2017

44-49

1 reference

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

27 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Glycoprotein complex anchoring dystrophin to sarcolemma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Maintenance of ambulation in childhood muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Is dystrophin always altered in Becker muscular dystrophy patients?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Mutations in the sarcoglycan genes in patients with myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900040-4

10.1016/S0022-510X(99)00040-4

7 January 2021

Identifiers

DOI

1 reference

release_bbenjqgu5nhblgnw2fq7udsd2e

27 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bbenjqgu5nhblgnw2fq7udsd2e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference