Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population (Q43903579)

27 November 2017

title

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

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autosomal recessive limb-girdle muscular dystrophy

27 November 2017

main subject

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6

Zatz M

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ORCID Public Data File 2021

27 November 2017

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author name string

Vainzof M

1

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27 November 2017

Passos-Bueno MR

2

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27 November 2017

Pavanello RC

3

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27 November 2017

Marie SK

4

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27 November 2017

Oliveira AS

5

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27 November 2017

language of work or name

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1 March 1999

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Journal of the Neurological Sciences

27 November 2017

published in

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27 November 2017

volume

164

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27 November 2017

issue

1

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27 November 2017

page(s)

44-49

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

27 November 2017

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

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Glycoprotein complex anchoring dystrophin to sarcolemma

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

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7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

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

7 January 2021

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7 January 2021

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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

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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

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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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

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7 January 2021

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7 January 2021

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7 January 2021

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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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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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

7 January 2021

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

7 January 2021

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release_bbenjqgu5nhblgnw2fq7udsd2e

27 November 2017

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

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