Literature DB >> 4731334

A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy.

A K Afifi, R A Bergman, H Zellweger.   

Abstract

Five carriers of the gene of Duchenne type muscular dystrophy are described. Muscle histology was minimally to moderately abnormal in two and normal in three. Electron microscopy was abnormal in all five and showed massive aggregates of subsarcolemmal mitochondria, paracrystalline mitochondria, Z line streaming, central nuclei, dilated sacs of sarcoplasmic reticulum, focal loss of myofilaments, and lipid lysosome bodies. The electron microscopic literature on the carrier state is reviewed and analysed. The possible role of electron microscopy in detection of carriers is discussed.

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Year:  1973        PMID: 4731334      PMCID: PMC494423          DOI: 10.1136/jnnp.36.4.643

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  13 in total

1.  [Ultrastructural investigations of muscular system in a case of duchenne muscular dystrophy in order to identify carriers. The myofibrillar degeneration].

Authors:  U P Ketelsen; E Freund-Mölbert; R Beckmann
Journal:  Beitr Pathol       Date:  1970

2.  Steroid myopathy. A study of the evolution of the muscle lesion in rabbits.

Authors:  A K Afifi; R A Bergman
Journal:  Johns Hopkins Med J       Date:  1969-02

3.  Pathology of muscular hypotonia in the Prader-Willi syndrome. Light and electron microscopic study.

Authors:  A K Afifi; H Zellweger
Journal:  J Neurol Sci       Date:  1969 Jul-Aug       Impact factor: 3.181

4.  Changes in muscle structure in dystrophic patients, carriers and normal siblings seen by electron microscopy; correlation with levels of serum creatinephosphokinase (CPK).

Authors:  A T Milhorat; S A Shafiq; L Goldstone
Journal:  Ann N Y Acad Sci       Date:  1966-09-09       Impact factor: 5.691

5.  Ultrastructure of atrophic muscle in amyotrophic lateral sclerosis.

Authors:  A K Afifi; F P Aleu; J Goodgold; B MacKay
Journal:  Neurology       Date:  1966-05       Impact factor: 9.910

6.  Hypothyroid myopathy. Clinical, electromyographical, and ultrastructural observations.

Authors:  F H Norris; B J Panner
Journal:  Arch Neurol       Date:  1966-06

7.  Detection of subclinical and carrier states in Duchenne muscular dystrophy.

Authors:  H L Smith; L D Amick; W W Johnson
Journal:  J Pediatr       Date:  1966-07       Impact factor: 4.406

8.  Pre-clinical muscular dystrophy: histopathological changes observed on muscle biopsy.

Authors:  P Hudgson; G W Pearce; J N Walton
Journal:  Brain       Date:  1967-09       Impact factor: 13.501

9.  Benign congenital muscular dystrophy: a special form of congenital hypotonia.

Authors:  H Zellweger; A Afifi; W F McCormick; W Mergner
Journal:  Clin Pediatr (Phila)       Date:  1967-11       Impact factor: 1.168

10.  Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy.

Authors:  G M Shy; N K Gonatas; M Perez
Journal:  Brain       Date:  1966-03       Impact factor: 13.501

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  4 in total

Review 1.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.

Authors:  R F Gaines; S M Pueschel; E A Sassaman; J L Driscoll
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

3.  A biochemical, histological and electronmicroscopical study of possible carriers in Duchenne muscular dystrophy.

Authors:  I D Craig; I V Allen; D McCormick
Journal:  Ir J Med Sci       Date:  1978-04       Impact factor: 1.568

4.  Detection of Duchenne muscular dystrophy carriers: quantitative echography and creatine kinasemia.

Authors:  G Schapira; P Laugier; J Rochette; G Berger; P Katz; J Perrin
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

  4 in total

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