Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt (Q33751724)

26934379

29 July 2017

title

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt (English)

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limb-girdle muscular dystrophy

29 July 2017

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31 May 2020

Hemakumar M Reddy

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Satomi Mitsuhashi

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Elicia Estrella

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Michael D Jones

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Lane J Mahoney

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Kyung-Ah Cho

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Daniel G Macarthur

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Peter B Kang

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publication date

2 March 2016

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29 July 2017

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volume

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issue

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page(s)

690-695

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

31 May 2020

cites work

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Genetic basis of limb-girdle muscular dystrophies: the 2014 update

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21 June 2018

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Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.

21 June 2018

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Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

21 June 2018

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A method and server for predicting damaging missense mutations

21 June 2018

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

21 June 2018

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Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

21 June 2018

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21 June 2018

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LGMD2I in a North American population

21 June 2018

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Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes

21 June 2018

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

21 June 2018

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Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.

21 June 2018

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Limb-girdle muscular dystrophies

21 June 2018

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

21 June 2018

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21 June 2018

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 June 2018

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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

21 June 2018

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Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

30 October 2018

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12 December 2020

Making sense of the muscular dystrophies: diagnosis and treatment guideline for limb-girdle muscular dystrophy

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Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

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Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene

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12 December 2020

Identifiers

DOI

10.1002/MUS.25094

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31 May 2020

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31 May 2020

26934379

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