Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients (Q42648925)

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title

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients (English)

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autosomal recessive limb-girdle muscular dystrophy type 2D

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Hackman P

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Juvonen V

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Sarparanta J

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Penttinen M

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Aärimaa T

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Uusitalo M

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Auranen M

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Pihko H

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Alén R

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Junes M

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Lönnqvist T

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Kalimo H

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Udd B

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publication date

1 February 2005

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page(s)

199-204

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

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cites work

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

21 January 2018

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Making sense of the limb-girdle muscular dystrophies

21 January 2018

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Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

21 January 2018

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Dual origins of Finns revealed by Y chromosome haplotype variation

21 January 2018

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

21 January 2018

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Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

21 January 2018

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

21 January 2018

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Dystrophin-associated proteins in muscular dystrophy

21 January 2018

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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

21 January 2018

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Molecular genetics of the Finnish disease heritage.

21 January 2018

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

21 January 2018

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Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population

21 January 2018

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

21 January 2018

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The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.20267

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4 November 2017

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