Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Naoki Suzuki; Masashi Aoki; Hideki Mizuno; Yoshiaki Onodera; Toshiaki Takahashi; Tetsuya Nagata; Maki Tateyama; Yasuto Itoyama

doi:10.1002/mus.20417

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Naoki Suzuki, Masashi Aoki, Hideki Mizuno, Yoshiaki Onodera, Toshiaki Takahashi, Tetsuya Nagata, Maki Tateyama, Yasuto Itoyama

研究成果: Article › 査読

3 被引用数 (Scopus)

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We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.

本文言語	English
ページ（範囲）	812-814
ページ数	3
ジャーナル	Muscle and Nerve
巻	32
号	6
DOI	https://doi.org/10.1002/mus.20417
出版ステータス	Published - 2005 12月

ASJC Scopus subject areas

生理学
臨床神経学
細胞および分子神経科学
生理学（医学）

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title = "Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes",

abstract = "We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.",

keywords = "Distal myopathy, Dysferlin, GNE, Late-onset myopathy, Rimmed vacuoles",

author = "Naoki Suzuki and Masashi Aoki and Hideki Mizuno and Yoshiaki Onodera and Toshiaki Takahashi and Tetsuya Nagata and Maki Tateyama and Yasuto Itoyama",

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T1 - Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

AU - Suzuki, Naoki

AU - Aoki, Masashi

AU - Mizuno, Hideki

AU - Onodera, Yoshiaki

AU - Takahashi, Toshiaki

AU - Nagata, Tetsuya

AU - Tateyama, Maki

AU - Itoyama, Yasuto

PY - 2005/12

Y1 - 2005/12

N2 - We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.

AB - We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.

KW - Distal myopathy

KW - Dysferlin

KW - GNE

KW - Late-onset myopathy

KW - Rimmed vacuoles

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VL - 32

SP - 812

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JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 6

ER -

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

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