Literature DB >> 157387

Crural hypertrophy associated with centronuclear myopathy.

P Bill, G Cole, N S Proctor, D Saffer, A Botes.   

Abstract

A case of centronuclear myopathy of adult onset with striking hypertrophy of lower limb muscles in a black South African man is described with details of the light microscopic, histochemical, and ultrastructural features. The association of hypertrophied muscles with centronuclear myopathy has not to our knowledge been reported previously and it is felt that this may be a variant of the condition.

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Year:  1979        PMID： 157387      PMCID： PMC490259          DOI： 10.1136/jnnp.42.6.542

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


  6 in total

1.  Centronuclear myopathy: histochemistry and electron microscopy. Report of two cases.

Authors:  J T Headington; J O McNamara; A K Brownell
Journal:  Arch Pathol       Date:  1975-01

2.  Centronuclear myopathy.

Authors:  P L Bill; G Cole; N S Proctor
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-06       Impact factor: 10.154

3.  Centronuclear myopathy in old age.

Authors:  D G Harriman; M A Haleem
Journal:  J Pathol       Date:  1972-11       Impact factor: 7.996

4.  Centronuclear myopathy with autosomal dominant inheritance.

Authors:  J G McLeod; W de C Baker; A K Lethlean; C D Shorey
Journal:  J Neurol Sci       Date:  1972-04       Impact factor: 3.181

5.  Familial "myotubular" myopathy.

Authors:  G K van Wijngaarden; P Fleury; J Bethlem; A E Meijer
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

6.  Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. A new spinal muscular atrophy syndrome.

Authors:  J Pearn; P Hudgson
Journal:  Lancet       Date:  1978-05-20       Impact factor: 79.321
  6 in total
  2 in total

Review 1.  The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Authors:  C Wallgren-Pettersson; A Clarke; F Samson; M Fardeau; V Dubowitz; H Moser; T Grimm; R J Barohn; P G Barth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

Review 2.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123
  2 in total

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