Rippling muscle disease in childhood (Q44147985)

30 November 2017

title

Rippling muscle disease in childhood (English)

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30 November 2017

main subject

rippling muscle disease

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30 November 2017

Ulrike Schara

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30 November 2017

Matthias Vorgerd

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30 November 2017

Nikola Popovic

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30 November 2017

Kenneth Ricker

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30 November 2017

Wilhelm Mortier

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30 November 2017

publication date

1 July 2002

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Journal of Child Neurology

30 November 2017

published in

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30 November 2017

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30 November 2017

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30 November 2017

page(s)

483-490

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A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen

30 November 2017

cites work

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Benign familial disease with muscle mounding and rippling

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Rippling muscle disease: evidence for phenotypic and genetic heterogeneity

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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

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Severe autosomal recessive rippling muscle disease

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Caveolin-3 in muscular dystrophy

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

21 January 2018

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

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Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

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Caveolin-3 deficiency causes muscle degeneration in mice

21 January 2018

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Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

21 January 2018

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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

21 January 2018

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Nitric oxide synthases: which, where, how, and why?

21 January 2018

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Physiology of nitric oxide in skeletal muscle

21 January 2018

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Nitric oxide: biologic effects on muscle and role in muscle diseases

21 January 2018

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The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

21 January 2018

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Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity

21 January 2018

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Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy

21 January 2018

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Behavioural abnormalities in male mice lacking neuronal nitric oxide synthase.

21 January 2018

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Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members

21 January 2018

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The sarcoglycan complex in limb-girdle muscular dystrophy

21 January 2018

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10.1177/088307380201700703

21 January 2018

Identifiers

DOI

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30 November 2017

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