Nemaline myopathy type 6: clinical and myopathological features. - Wikidata - wikimedia - TriplyDB

Nemaline myopathy type 6: clinical and myopathological features.

Nemaline myopathy type 6: clinical and myopathological features.

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Congenital myopathies: an update Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

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Nemaline myopathy type 6: clinical and myopathological features.

http://www.wikidata.org/entity/Q34676213

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2010 nî lūn-bûn

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2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Nemaline myopathy type 6: clinical and myopathological features.

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Muscle and Nerve

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Nemaline myopathy type 6: clinical and myopathological features.

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Andre Blokhin

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Dolores Moreno

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Hee-Suk Lee

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Lev G Goldfarb

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Nyamkhishig Sambuughin

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Zagaa Odgerel

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P2860

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

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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

Genetics of congenital nemaline myopathy: a study of 10 families.

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901-907

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10.1002/MUS.21788

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6

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42

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Laura Gonzalez-Mera

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2010-12-01T00:00:00Z

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49633256

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21104864

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