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Literature DB >> 3709566

Childhood neuromuscular disease with rimmed vacuoles.

Abstract

A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a "myopathic" EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous "rimmed" vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.

Entities: Disease Species

Mesh：

Year: 1986 PMID： 3709566 DOI： 10.1007/bf00496035

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

7 in total

1. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy.

Authors: S Carpenter; G Karpati; I Heller; A Eisen
Journal: Neurology Date: 1978-01 Impact factor: 9.910

2. 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

1 in total

1. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Authors: Hans H Goebel; Carsten G Bönnemann
Journal: Neuromuscul Disord Date: 2011-03-29 Impact factor: 4.296

1 in total

Childhood neuromuscular disease with rimmed vacuoles.

1. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy.

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

3. A new myopathy with tubulomembranous inclusions.

4. Familial granulovacuolar lobular myopathy with electrical myotonia.

5. Nuclear inclusions in oculopharyngeal dystrophy.

6. Rimmed vacuoles.

7. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews.

1. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.