A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2054-345X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy ; volume:5 ; number:1 ; day:20 ; month:7 ; year:2018 ; pages:1-5 ; date:12.2018
Human genome variation ; 5, Heft 1 (20.7.2018), 1-5, 12.2018

Creator: Ishiyama, Akihiko

Contributor: Iida, Aritoshi
Hayashi, Shinichiro
Komaki, Hirofumi
Sasaki, Masayuki
Nonaka, Ikuya
Noguchi, Satoru
Nishino, Ichizo
SpringerLink (Online service)

DOI: 10.1038/s41439-018-0018-6

URN: urn:nbn:de:101:1-2018092321120280412298

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:29 AM CEST

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Associated

Ishiyama, Akihiko
Iida, Aritoshi
Hayashi, Shinichiro
Komaki, Hirofumi
Sasaki, Masayuki
Nonaka, Ikuya
Noguchi, Satoru
Nishino, Ichizo
SpringerLink (Online service)

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A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

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Other Objects (12)

Congenital muscular dystrophy: from muscle to brain

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Mechanosensing defects and YAP-signaling in LMNA-related congenital muscular dystrophy

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

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Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

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Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Mechanosensing defects and YAP-signaling in LMNA-related congenital muscular dystrophy

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

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Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

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Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Mechanosensing defects and YAP-signaling in LMNA-related congenital muscular dystrophy

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

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