(Q50772888)

19 March 2018

title

Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. (English)

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19 March 2018

author name string

Sigesmund DA

1

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19 March 2018

Weleber RG

2

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19 March 2018

Pillers DA

3

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19 March 2018

Westall CA

4

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19 March 2018

Panton CM

5

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19 March 2018

Powell BR

6

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19 March 2018

Héon E

7

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19 March 2018

Murphey WH

8

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19 March 2018

Musarella MA

9

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19 March 2018

Ray PN

10

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19 March 2018

publication date

1 May 1994

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19 March 2018

published in

Ophthalmology

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19 March 2018

volume

101

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19 March 2018

issue

5

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19 March 2018

page(s)

856-865

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19 March 2018

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

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Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.

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Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain

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Dystrophin is a component of the subsynaptic membrane

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Dystrophin expression in the human retina is required for normal function as defined by electroretinography

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Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

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Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

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Blindness from quinine toxicity

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7 January 2021

Digoxin retinal toxicity. Clinical and electrophysiological evaluation of a cone dysfunction syndrome

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7 January 2021

The clinical electroretinogram. VIII. The electroretinogram in diabetic retinopathy

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

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7 January 2021

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

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7 January 2021

Enormous dystrophin in a patient with Becker muscular dystrophy

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7 January 2021

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

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7 January 2021

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

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7 January 2021

Positive and Negative Deflections in the Off Response of the Electroretinogram in Man

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7 January 2021

10.1016/S0161-6420(13)31249-4

Identifiers

DOI

1 reference

19 March 2018

1 reference

19 March 2018