Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin (Q28143777)

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object named as

M R Passos-Bueno

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author name string

E S Moreira

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T J Wiltshire

2

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G Faulkner

3

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A Nilforoushan

4

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M Vainzof

5

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O T Suzuki

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G Valle

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R Reeves

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D E Jenne

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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language of work or name

English

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publication date

February 2000

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published in

Nature Genetics

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volume

24

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page(s)

163-6

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issue

2

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cites work

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

21 January 2018

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Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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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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The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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

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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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Dystrophin-associated proteins in muscular dystrophy

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Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex

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

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1 reference

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

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1 reference

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

21 January 2018

1 reference

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

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1 reference

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

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Muscle assembly: a titanic achievement?

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Structural basis for activation of the titin kinase domain during myofibrillogenesis

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

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Strategies for multilocus linkage analysis in humans

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Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference