LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3 (Q28274051)

2

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C Ben Hamida

3

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M B Hamida

4

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F Hentati

5

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L M Kunkel

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

6

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language of work or name

English

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publication date

May 1998

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published in

Neuromuscular Disorders

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volume

8

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issue

3-4

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page(s)

193-7

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cites work

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

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7 January 2021

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

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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Limb-girdle muscular dystrophy 2C: clinical aspects

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Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

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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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Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

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7 January 2021

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

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

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

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

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Mutations in the sarcoglycan genes in patients with myopathy

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