Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification. - Wikidata - awgldk - TriplyDB

Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.

Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.

http://www.wikidata.org/entity/Q37784429

about

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.

P2860

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P2860

Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.

http://www.wikidata.org/entity/Q37784429

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 31 August 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Markesbery disease: autosomal ...... e to ZASP gene identification.

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Markesbery disease: autosomal ...... e to ZASP gene identification.

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type

label

Markesbery disease: autosomal ...... e to ZASP gene identification.

@en

Markesbery disease: autosomal ...... e to ZASP gene identification.

@nl

prefLabel

Markesbery disease: autosomal ...... e to ZASP gene identification.

@en

Markesbery disease: autosomal ...... e to ZASP gene identification.

@nl

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S12017-010-8134-6

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NeuroMolecular Medicine

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Markesbery disease: autosomal ...... e to ZASP gene identification.

@en

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Bjarne A Udd

http://www.w3.org/2001/XMLSchema#string

Robert C Griggs

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P2860

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

Myotilinopathy in a family with late onset myopathy

Mutations in myotilin cause myofibrillar myopathy

Zaspopathy in a large classic late-onset distal myopathy family

Mutations in ZASP define a novel form of muscular dystrophy in humans

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.

Distal myopathy: electron microscopic and histochemical studies.

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s12017-010-8134-6

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27-30

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scholarly article

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10.1007/S12017-010-8134-6

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1

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13

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2010-08-31T00:00:00Z

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20809097

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