Clinical utility gene card for: Centronuclear and myotubular myopathies. - Wikidata - awgldk - TriplyDB

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Clinical utility gene card for: Centronuclear and myotubular myopathies.

http://www.wikidata.org/entity/Q36253416

about

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene Triadopathies: an emerging class of skeletal muscle diseases.Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Extensive morphological and immunohistochemical characterization in myotubular myopathy.Gene therapy in monogenic congenital myopathies.Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.Centronuclear myopathies under attack: A plethora of therapeutic targets ECEL1mutation causes fetal arthrogryposis multiplex congenita

P2860

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P2860

Clinical utility gene card for: Centronuclear and myotubular myopathies.

http://www.wikidata.org/entity/Q36253416

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

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2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@ast

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@en

type

label

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@ast

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@en

prefLabel

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@ast

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@en

P1433

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P2860

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P2888

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P932

Q36253416-E7371F16-F9A3-4677-B850-82F8FA7C37E3

P356

P1433

European Journal of Human Genetics

P1476

Clinical utility gene card for: Centronuclear and myotubular myopathies.

@en

P2093

Jocelyn Laporte

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

Norma B Romero

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

Soma Das

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

Valérie Biancalana

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

Wolfram Kress

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

P2860

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

MTM1 mutations in X-linked myotubular myopathy

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

Mutations in dynamin 2 cause dominant centronuclear myopathy

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.

P2888

P31

scholarly article

P356

10.1038/EJHG.2012.91

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P433

10

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P478

20

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P50

Heinz Jungbluth

P577

2012-05-23T00:00:00Z

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P5875

225056082

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P698

22617344

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P932

3449068

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