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Literature DB >> 469562

Centronuclear myopathy.

Abstract

Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are different modes of inheritance, and the pathogenesis remains unclear.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 469562 PMCID： PMC490260 DOI： 10.1136/jnnp.42.6.548

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

16 in total

1. X-linked myotubular myopathy with fatal neonatal asphyxia.

Authors: P G Barth; G K Van Wijngaarden; J Bethlem
Journal: Neurology Date: 1975-06 Impact factor: 9.910

2. 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

3. Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model.

Authors: W K Engel; G N Gold; G Karpati
Journal: Arch Neurol Date: 1968-04

4. Centronuclear myopathy in old age.

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

5. Myotubular myopathy.

Authors: B Badurska; A Fidziańska; Z Kamieniecka; J Prot; H Strugalska
Journal: J Neurol Sci Date: 1969 May-Jun Impact factor: 3.181

6. Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease.

Authors: G Karpati; S Carpenter; R F Nelson
Journal: J Neurol Sci Date: 1970-05 Impact factor: 3.181

7. 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

8. Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature.

Authors: S S Schochet; H Zellweger; V Ionasescu; W F McCormick
Journal: J Neurol Sci Date: 1972-06 Impact factor: 3.181

Centronuclear myopathy.

1. X-linked myotubular myopathy with fatal neonatal asphyxia.

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

3. Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model.

4. Centronuclear myopathy in old age.

5. Myotubular myopathy.

6. Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease.

7. Centronuclear myopathy with autosomal dominant inheritance.

8. Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature.

9. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.

10. [Clinical and ultrastructural study of a case of centronuclear myopathy (myotubular myopathy) in an adult].

1. Adult onset centronuclear myopathy with peripheral nerve involvement.

2. Crural hypertrophy associated with centronuclear myopathy.