Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

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Myopathology in times of modern imaging.Congenital myopathies: clinical phenotypes and new diagnostic tools.Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle.

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Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

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http://www.wikidata.org/entity/Q57588149

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article

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2014

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Muscle magnetic resonance imag ...... d congenital nemaline myopathy

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Muscle magnetic resonance imag ...... d congenital nemaline myopathy

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Muscle magnetic resonance imag ...... d congenital nemaline myopathy

@en

Muscle magnetic resonance imag ...... d congenital nemaline myopathy

@nl

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Muscle magnetic resonance imag ...... d congenital nemaline myopathy

@en

Muscle magnetic resonance imag ...... d congenital nemaline myopathy

@nl

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Muscle magnetic resonance imag ...... d congenital nemaline myopathy

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Denis Cassandrini

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Emanuele Bellacchio

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Jorge A Bevilacqua

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Jorge Diaz

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Karin Alvarez

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Norma B Romero

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Roger Gejman

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P2860

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

Congenital fiber type disproportion--30 years on.

Recent advances in nemaline myopathy.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Muscle imaging in congenital myopathies.

Myopathies associated with β-tropomyosin mutations.

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1011-1016

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scholarly article

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10.1002/MUS.24353

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2014-10-30T00:00:00Z

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25088345

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Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

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P2860

P2860

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698