Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

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name

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@en

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

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Item

label

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@en

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@nl

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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@en

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@nl

P1476

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

@en

P2093

Hyung Jun Park

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

Jung Hwan Lee

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

Younggun Lee

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

Diagnostic approach to the congenital muscular dystrophies.

Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

P304

405-410

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P31

scholarly article

P356

10.3988/JCN.2017.13.4.405

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P433

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

P478

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

P50

Young-Chul Choi

P577

2017-10-01T00:00:00Z

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P698

29057633

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P932

5653629

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