Literature DB >> 77317

Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family.

I Hausmanowa-Petrusewicz, J Borkowska.   

Abstract

Four of five afflicted boys in the family K. suffer from the Becker type of dystrophy and one from a more severe type. All affected boys and their mothers, who are three sisters, have undergone clinical, electromyographic, electrocardiographic and biochemical examination; muscle biopsy was performed in some boys. This family is a rare example of the intrafamilial variability of X-linked progressive muscular dystrophy. The possible explanation of the variability observed is discussed.

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Year:  1978        PMID: 77317     DOI: 10.1007/BF00314717

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  15 in total

1.  Survival in x-chromosomal muscular dystrophy.

Authors:  F E DREIFUSS; G R HOGAN
Journal:  Neurology       Date:  1961-08       Impact factor: 9.910

2.  Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

Authors:  H BLYTH; R J PUGH
Journal:  Ann Hum Genet       Date:  1959-04       Impact factor: 1.670

3.  [A new x-chromosomal muscular dystrophy].

Authors:  P E BECKER; F KIENER
Journal:  Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr       Date:  1955

4.  The heart in progressive muscular dystrophy.

Authors:  I L RUBIN
Journal:  Am Heart J       Date:  1952-02       Impact factor: 4.749

Review 5.  [New data on the genetics and classification of muscular dystrophies].

Authors:  P E Becker
Journal:  Humangenetik       Date:  1972

6.  Glycoside effect upon membrane enzymes of erythrocytes and muscle in duck myopathy.

Authors:  H D Brown; S K Chattopadhyay; A Patel; R H Rigdon
Journal:  Experientia       Date:  1967-07-15

7.  Studies of healthy relatives of patients with Duchenne muscular dystrophy.

Authors:  I Hausmanowa-Petrusewicz; J Prot; I Niebrój-Dobosz; L Hetnarska; B Emeryk; B Wasowicz; W Askanas; C Slucka
Journal:  J Neurol Sci       Date:  1968 Nov-Dec       Impact factor: 3.181

8.  Benign sex-linked muscular dystrophy. Clinical and pathological features.

Authors:  O N Markand; R R North; A N D'Agostino; D D Daly
Journal:  Neurology       Date:  1969-07       Impact factor: 9.910

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

Authors:  C C Mabry; I E Roeckel; R L Munich; D Robertson
Journal:  N Engl J Med       Date:  1965-11-11       Impact factor: 91.245

10.  Unusual type of benign x-linked muscular dystrophy.

Authors:  A E Emery; F E Dreifuss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-08       Impact factor: 10.154

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  5 in total

1.  Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

Authors:  G K Suthers; J I Manson; L M Stern; E A Haan; J C Mulley
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

2.  Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

Authors:  A Russo; G Barbujani; M L Mostacciuolo; F H Herrmann; A W Spiegler; G Galluzzi; G A Danieli
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

3.  Ultrastructural studies on the neuromuscular junctions of Becker's muscular dystrophy.

Authors:  N Fukuhara; M Suzuki; T Tsubaki; S Kushiro; N Takasawa
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

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.  Population data on benign and severe forms of X-linked muscular dystrophy.

Authors:  M L Mostacciuolo; A Lombardi; V Cambissa; G A Danieli; C Angelini
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

  5 in total

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