Clinical utility gene card for: Multi-minicore disease.

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Monovalent cationic channel activity in the inner membrane of nuclei from skeletal muscle fibers.Clinical utility gene card for: Central core disease.

P2860

Q34467099-D2ECB8FD-CF64-4252-8ED2-48198D9B79CF Q40492722-619C2759-4C99-4F47-81A2-200C75EF39B2

P2860

Clinical utility gene card for: Multi-minicore disease.

Item

http://www.wikidata.org/entity/Q40492542

description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

@wuu

2011年学术文章

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2011年学术文章

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2011年学术文章

@zh-my

2011年学术文章

@zh-sg

2011年學術文章

@yue

2011年學術文章

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2011年學術文章

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name

Clinical utility gene card for: Multi-minicore disease.

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type

Item

label

Clinical utility gene card for: Multi-minicore disease.

@en

prefLabel

Clinical utility gene card for: Multi-minicore disease.

@en

P1476

Clinical utility gene card for: Multi-minicore disease

@en

P2093

Ana Ferreiro

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

Francesco Muntoni

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

Steve Abbs

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

Suzanne Lillis

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

P2860

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

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

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

Central core disease is due to RYR1 mutations in more than 90% of patients.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

P2888

ejhg.2011.180

P304

155-160

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P31

scholarly article

P356

10.1038/EJHG.2011.180

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P433

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

P478

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Heinz Jungbluth

P577

2011-10-19T00:00:00Z

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P5875

51726962

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1025465914

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P698

22009146

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P932

3260928

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Clinical utility gene card for: Multi-minicore disease.

about

P2860

P2860

Clinical utility gene card for: Multi-minicore disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932