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Literature DB >> 6890649

An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy.

G M Fenichel, Y C Sul, A W Kilroy, R Blouin.

Abstract

Entities: Disease

Mesh：

Year: 1982 PMID： 6890649 DOI： 10.1212/wnl.32.12.1399

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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13 in total

1. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy.

Authors: M P Merchut; D Zdonczyk; M Gujrati
Journal: J Neurol Date: 1990-08 Impact factor: 4.849

2. The rigid spine syndrome in two sisters.

Authors: J A Vanneste; P B Augustijn; F C Stam
Journal: J Neurol Neurosurg Psychiatry Date: 1988-01 Impact factor: 10.154

3. Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality.

Authors: K Tanaka; T Yoshimura; H Muratani; J Kira; Y Itoyama; I Goto
Journal: J Neurol Date: 1989-01 Impact factor: 4.849

4. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Authors: M Raffaele Di Barletta; E Ricci; G Galluzzi; P Tonali; M Mora; L Morandi; A Romorini; T Voit; K H Orstavik; L Merlini; C Trevisan; V Biancalana; I Housmanowa-Petrusewicz; S Bione; R Ricotti; K Schwartz; G Bonne; D Toniolo
Journal: Am J Hum Genet Date: 2000-03-16 Impact factor: 11.025

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

Authors: G Galassi; M G Modena; A Benassi; R Nemni; M Gibertoni; G Volpi; A Colombo
Journal: Ital J Neurol Sci Date: 1986-02

An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy.

1. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy.

2. The rigid spine syndrome in two sisters.

3. Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality.

4. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

5. Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.

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

7. Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification.

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

9. [Dominant autosomal humeroperoneal syndrome with early contractures and cardiomyopathy (Emery-Dreifuss syndrome)].

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