Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

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An innovative way to highlight the power of each polymorphism on elite athletes phenotype expression.EJTM3 is also covering Mobility and Medicine at large, an update

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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

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http://www.wikidata.org/entity/Q46531755

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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@zh-hans

2017年学术文章

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2017年學術文章

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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@en

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

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type

Item

label

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@en

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@nl

prefLabel

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@en

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@nl

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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

@en

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Jessica Vázquez

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

Jorge A Bevilacqua

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

Jorge Díaz

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

Marian Lara

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

Mario Campero

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

Ricardo A Maselli

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P2860

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

The muscle protein Dok-7 is essential for neuromuscular synaptogenesis

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

Clinical features of the DOK7 neuromuscular junction synaptopathy

The MG Composite: A valid and reliable outcome measure for myasthenia gravis.

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Distinct muscle imaging patterns in myofibrillar myopathies.

Muscle magnetic resonance imaging in congenital myasthenic syndromes.

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

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scholarly article

case report

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10.4081/EJTM.2017.6832

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2017-06-01T00:00:00Z

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29118959

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Chile

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5658635

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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

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P2860

P2860

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932