(Q41068606)

26 September 2017

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title

Dystrophinopathies: clarification and complication (English)

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26 September 2017

F J Samaha

1

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26 September 2017

J G Quinlan

series ordinal

2

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26 September 2017

language of work or name

1 reference

1 January 1996

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Journal of Child Neurology

26 September 2017

published in

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26 September 2017

volume

11

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26 September 2017

issue

1

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26 September 2017

page(s)

13-20

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An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.

26 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

21 January 2018

Dystrophin and disease

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Characterization of deletions in the dystrophin gene giving mild phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

On the classification, natural history and treatment of the myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Manifesting carrier of X-linked Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Familial hyperglycerolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Quadriceps myopathy: forme fruste of Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Two cases of myopathy limited to the quadriceps

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Quadriceps myopathy--entity or syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Chronic neurogenic quadriceps amyotrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Hereditary quadriceps myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

An inherited dystrophin deletion without muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Cardiac transplantation in Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389601100103

10.1177/088307389601100103

21 January 2018

Identifiers

DOI

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26 September 2017

1 reference