Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

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A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Pathology provides clarity in the next-generation sequencing era.

P2860

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P2860

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

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http://www.wikidata.org/entity/Q48266921

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

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2014年学术文章

@zh-sg

2014年學術文章

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2014年學術文章

@zh-hant

name

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@en

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@nl

type

Item

label

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@en

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@nl

prefLabel

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@en

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@nl

P1476

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

@en

P2093

Akinori Uruha

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Ikuya Nonaka

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

Jun-ichi Kira

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

Katsuhisa Ogata

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

Madoka Mori-Yoshimura

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

Masahiro Kanai

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

Mayumi Kawamura

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

Miho Murata

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

Norito Kokubun

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

Rei Yasuda

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

P2860

Titin mutations as the molecular basis for dilated cardiomyopathy

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

Neuromuscular imaging in inherited muscle diseases

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Truncations of titin causing dilated cardiomyopathy.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Distinct muscle imaging patterns in myofibrillar myopathies.

P304

483-489

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scholarly article

P356

10.1136/JNNP-2014-309009

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English

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

P478

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

P50

Ichizo Nishino

P577

2014-09-24T00:00:00Z

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P5875

266151378

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P698

25253871

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Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

about

P2860

P2860

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

description

name

type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

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P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698