Revised spectrum of mutations in sarcoglycanopathies. (Q54545820)

31 May 2018

title

Revised spectrum of mutations in sarcoglycanopathies. (English)

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31 May 2018

author name string

Madiha Trabelsi

1

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31 May 2018

Niloufar Kavian

2

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31 May 2018

Fatma Daoud

3

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31 May 2018

Virginie Commere

4

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31 May 2018

Nathalie Deburgrave

5

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31 May 2018

Caroline Beugnet

6

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31 May 2018

Stephane Llense

7

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31 May 2018

Jean Claude Barbot

8

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31 May 2018

Aurélie Vasson

9

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31 May 2018

Jean Claude Kaplan

10

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31 May 2018

France Leturcq

11

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31 May 2018

Jamel Chelly

12

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31 May 2018

publication date

20 February 2008

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31 May 2018

European Journal of Human Genetics

published in

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31 May 2018

volume

16

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31 May 2018

issue

7

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31 May 2018

page(s)

793-803

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31 May 2018

The sarcoglycan complex in limb-girdle muscular dystrophy

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

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

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

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

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

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

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

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

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Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

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

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

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Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

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Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

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The heart in limb girdle muscular dystrophy.

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Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.

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Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies

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Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

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A perfect message: RNA surveillance and nonsense-mediated decay

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LGMD2E patients risk developing dilated cardiomyopathy

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7 January 2021

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

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7 January 2021

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion

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7 January 2021

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

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7 January 2021

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

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7 January 2021

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

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A novel mutation in two families with limb-girdle muscular dystrophy type 2C

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Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

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7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.9

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31 May 2018

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31 May 2018