Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies (Q35196969)

7 August 2017

title

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies (English)

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Becker muscular dystrophy

7 August 2017

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2

E P Hoffman

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7 August 2017

A H Beggs

1

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7 August 2017

J R Snyder

3

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7 August 2017

K Arahata

4

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7 August 2017

L Specht

5

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7 August 2017

F Shapiro

6

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7 August 2017

C Angelini

7

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7 August 2017

H Sugita

8

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7 August 2017

L M Kunkel

9

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7 August 2017

language of work or name

English

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publication date

1 July 1991

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

49

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7 August 2017

issue

1

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7 August 2017

page(s)

54-67

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

A strategy to reveal high-frequency RFLPs along the human X chromosome

28 July 2018

1 reference

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Partial gene duplication in Duchenne and Becker muscular dystrophies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

The spectrin membrane skeleton: emerging concepts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Association of dystrophin and an integral membrane glycoprotein.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Quadriceps myopathy: forme fruste of Becker muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Dystrophin is transcribed in brain from a distant upstream promoter.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

The spectrum of mild X-linked recessive muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Enormous dystrophin in a patient with Becker muscular dystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683222

Cross-reactive protein in Duchenne muscle

26 September 2018

1 reference

12 December 2020

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1 reference

12 December 2020

Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: A kindred

1 reference

12 December 2020

Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin

1 reference

12 December 2020

alpha-Actinins and the DMD protein contain spectrin-like repeats

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Immunoelectron microscopic localization of dystrophin in myofibres

1 reference

12 December 2020

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Identifiers

PMC publication ID

1683222

1 reference

7 August 2017

1 reference