Literature DB >> 880066

The spectrum of mild X-linked recessive muscular dystrophy.

S P Ringel, J E Carroll, S C Schold.   

Abstract

We present 19 patients from 12 families with mild (Becker) X-linked recessive dystrophy and compare them with previously described cases. Features in common in the majority of patients include onset after the age of 7 years, walking beyond the age of 20 to 30 years, mild hypertrophy of the calves, mild joint contractures, and high arched feet. Pshychometric tests, EEGs, and ECGs were usually normal. Muscle biopsy specimens showed a combination of features, some more characteristic of severe (Duchenne) X-linked dystrophy and others more commonly seen in limb girdle dystrophy. Although there was some variation in the severity between different families, within any one kindred, the clinical picture was quite similar.

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Year:  1977        PMID: 880066     DOI: 10.1001/archneur.1977.00500190042006

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  6 in total

1.  Becker's x-linked muscular dystrophy. Histological, enzyme-histochemical, and ultrastructural studies of two cases, originally reported by Becker.

Authors:  H H Goebel; H Prange; F Gullotta; H Kiefer; M Z Jones
Journal:  Acta Neuropathol       Date:  1979-04-12       Impact factor: 17.088

2.  Pseudohypertrophy of muscles of thenar eminence in X-linked muscular dystrophy (Becker type).

Authors:  H G Boddie; J Wade
Journal:  Postgrad Med J       Date:  1980-02       Impact factor: 2.401

3.  The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history.

Authors:  K M Bushby; D Gardner-Medwin
Journal:  J Neurol       Date:  1993-02       Impact factor: 4.849

4.  Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy.

Authors:  A W Spiegler; I Hausmanowa-Petrusewicz; J Borkowska; F H Herrmann
Journal:  J Neurol       Date:  1987-04       Impact factor: 4.849

5.  Becker muscular dystrophy presenting with complete heart block in the sixth decade.

Authors:  R Quinlivan; J Ball; M Dunckley; D J Thomas; F Flinter; J Morgan-Hughes
Journal:  J Neurol       Date:  1995-06       Impact factor: 4.849

6.  Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Authors:  A H Beggs; E P Hoffman; J R Snyder; K Arahata; L Specht; F Shapiro; C Angelini; H Sugita; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

  6 in total

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