Literature DB >> 933110

A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

A Cao, C Cainchetti, L Calisti, W Tangheroni.   

Abstract

A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.

Entities:  

Mesh：

Year:  1976        PMID： 933110      PMCID： PMC1013372          DOI： 10.1136/jmg.13.2.131

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  17 in total

1.  HEREDITARY PROXIMAL NEUROGENIC MUSCULAR ATROPHY IN ADULT.

Authors:  H TSUKAGOSHI; T NAKANISHI; K KONDO; T TSUBAKI
Journal:  Arch Neurol       Date:  1965-06

2.  [PSEUDOMYOPATHIC SPINAL MUSCULAR ATROPHY. HEREDITARY NEUROGENIC PROXIMAL AMYOTROPHY OF KUGELBERG AND WELANDER].

Authors:  P E BECKER
Journal:  Z Mensch Vererb Konstitutionsl       Date:  1963-12-17

3.  A genetic study of progressive spinal muscular atrophy.

Authors:  N C MYRIANTHOPOULOS; I A BROWN
Journal:  Am J Hum Genet       Date:  1954-12       Impact factor: 11.025

4.  Neurogenic muscular atrophy simulating muscular dystrophy.

Authors:  K R MAGEE; R N DEJONG
Journal:  Arch Neurol       Date:  1960-06

5.  Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

Authors:  E KUGELBERG; L WELANDER
Journal:  AMA Arch Neurol Psychiatry       Date:  1956-05

6.  Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy.

Authors:  G WOHLFART; J FEX; S ELIASSON
Journal:  Acta Psychiatr Neurol Scand       Date:  1955

7.  Spinal muscular atrophy with autosomal dominant inheritance. Report of a new kindred.

Authors:  H Zellweger; J Simpson; W F McCormick; V Ionasescu
Journal:  Neurology       Date:  1972-09       Impact factor: 9.910

8.  Familial proximal spinal muscular atrophy.

Authors:  R M Armstrong; M H Fogelson; D H Silberberg
Journal:  Arch Neurol       Date:  1966-02

Review 9.  The nosology of the spinal muscular atrophies.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

10.  Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy).

Authors:  J M Garvie; A L Woolf
Journal:  Br Med J       Date:  1966-06-11
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