Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.

P2860

Q47205244-BB0B4EFB-FB06-48F4-BE8B-0B7A051742EE

P2860

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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http://www.wikidata.org/entity/Q38950857

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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label

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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prefLabel

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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P1476

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

@en

P2093

Anne Boland

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

Bruno Eymard

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

Chrystel Chéraud

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

Edoardo Malfatti

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Jean-François Deleuze

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Jean-Marie Cuisset

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Jocelyn Laporte

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Julie Thompson

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Michel Fardeau

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

Norma B Romero

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P2860

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

The palladin/myotilin/myopalladin family of actin-associated scaffolds

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.

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467-473

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P31

scholarly article

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10.1002/ANA.24900

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P433

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

P478

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

P50

Johann Bohm

Matteo Garibaldi

Johann Böhm

P577

2017-03-20T00:00:00Z

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P698

28220527

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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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P2860

P2860

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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P1476

P2093

P2860

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P356

P433

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P50

P577

P698

P356

P1433

P1476

P2093

P2860

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P50

P577

P698