Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

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Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.Hereditary myopathies with early respiratory insufficiency in adults.

P2860

Q30274553-30139A4F-2B21-452B-A04B-796202D13408 Q38970452-BFB12E2D-EA32-41C7-BE4C-BBE10EEDFDF2

P2860

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

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http://www.wikidata.org/entity/Q51553063

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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name

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

@en

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

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type

Item

label

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

@en

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

@nl

prefLabel

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

@en

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

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P1476

Adult-onset respiratory insuff ...... due to novel Megf10 mutations.

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P2093

Andrew G Engel

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Lee-Jun Wong

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

Nathan P Staff

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

Teerin Liewluck

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

Xia Tian

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

P2860

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Megf10 regulates the progression of the satellite cell myogenic program

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Spontaneous coronary artery dissection: current insights and therapy.

P304

984-988

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scholarly article

P356

10.1002/MUS.25054

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P433

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

P478

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Margherita Milone

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2016-01-23T00:00:00Z

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P698

26802438

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Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

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P2860

P2860

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

description

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P1433

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P698