Telethonin protein expression in neuromuscular disorders (Q28207504)

14

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Olli Carpén

7

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Mariz Vainzof

object named as

Mariz Vainzof

1

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Alan H. Beggs

object named as

Alan H Beggs

6

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Maria Rita Passos-Bueno

13

object named as

Maria Rita Passos-Bueno

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author name string

Eloisa S Moreira

2

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Oscar T Suzuki

3

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Georgine Faulkner

4

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Georgio Valle

5

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Alberto F Ribeiro

8

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Edmar Zanoteli

9

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Juliana Gurgel-Gianneti

10

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Ana Maria Tsanaclis

11

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Helga C A Silva

Biochimica et Biophysica Acta

12

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language of work or name

English

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publication date

9 October 2002

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published in

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volume

1588

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page(s)

33-40

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issue

1

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cites work

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Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

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Myotilin is mutated in limb girdle muscular dystrophy 1A

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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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Caveolin-3 in muscular dystrophy

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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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A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

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Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

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Glycoprotein complex anchoring dystrophin to sarcolemma

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

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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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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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Beta-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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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

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

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

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

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

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Telethonin, a novel sarcomeric protein of heart and skeletal muscle

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Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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

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The novel sarcomeric protein telethonin exhibits developmental and functional regulation

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