Emery-Dreifuss syndrome (Q24514959)

Journal of Medical Genetics

Europe PubMed Central

title

Emery-Dreifuss syndrome (English)

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author name string

A E Emery

series ordinal

1

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language of work or name

English

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publication date

October 1989

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published in

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volume

26

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issue

10

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page(s)

637-41

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cites work

New results of genetics of muscular dystrophy

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Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features

27 September 2017

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X-linked scapuloperoneal syndrome

27 September 2017

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The rigid spine syndrome--a myopathy of uncertain nosological position

27 September 2017

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Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy

27 September 2017

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Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature

27 September 2017

1 reference

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X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

27 September 2017

1 reference

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Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome

27 September 2017

1 reference

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Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene

27 September 2017

1 reference

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Adult onset scapuloperoneal myopathy

27 September 2017

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

27 September 2017

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Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity

27 September 2017

1 reference

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X-linked pseudohypertrophic muscular dystrophy with a late onset and slow progression

30 May 2018

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12 December 2020

[A new x-chromosomal muscular dystrophy]

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12 December 2020

Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait

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12 December 2020

Emery-dreifuss muscular dystrophy

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12 December 2020

Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy

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12 December 2020

Emery‐dreifuss humeroperoneal muscular dystorphy: An X‐linked myopathy with unusual contractures and bradycardia

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12 December 2020

Emery-Dreifuss muscular dystrophy

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12 December 2020

A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis

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12 December 2020

Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?

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12 December 2020

Benign muscular dystrophy with contractures: a new syndrome?

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12 December 2020

Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser)

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12 December 2020

A linkage study of Emery-Dreifuss muscular dystrophy

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12 December 2020

The rigid spine syndrome and Emery-Dreifuss muscular dystrophy

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Two families of benign sex-linked recessive muscular dystrophy

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12 December 2020

[Emery-Dreifuss disease or syndrome of amyotrophy with early contractures and secondary disorders of cardiac conduction with variable heredity]

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12 December 2020

Emery-Dreifuss muscular dystrophy. An autopsy case

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12 December 2020

Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy

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

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

1 reference

12 December 2020

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees

1 reference

12 December 2020

Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease

1 reference

12 December 2020