Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients (Q44454445)

3 December 2017

title

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients (English)

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3 December 2017

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3 December 2017

Kazuhiko Tagawa

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3 December 2017

Megumu Ogawa

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3 December 2017

Kiyokazu Kawabe

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3 December 2017

Gaku Yamanaka

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3 December 2017

Tsuyoshi Matsumura

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3 December 2017

Kanako Goto

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3 December 2017

Ikuya Nonaka

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3 December 2017

Yukiko K Hayashi

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3 December 2017

publication date

1 July 2003

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Journal of the Neurological Sciences

3 December 2017

published in

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3 December 2017

volume

211

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3 December 2017

issue

1-2

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3 December 2017

page(s)

23-28

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

3 December 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

7 January 2021

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The third human FER-1-like protein is highly similar to dysferlin.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

The C2 domain calcium-binding motif: structural and functional diversity

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

C2-domains, structure and function of a universal Ca2+-binding domain

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Dysferlin is a plasma membrane protein and is expressed early in human development

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

7 January 2021

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Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

7 January 2021

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Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900041-8

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

7 January 2021

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10.1016/S0022-510X(03)00041-8

7 January 2021

Identifiers

DOI

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3 December 2017

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