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Literature DB >> 1185197

Myotubular myopathy associated with cataract and electrical myotonia.

Abstract

A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.

Entities: Disease

Mesh：

Year: 1975 PMID： 1185197 PMCID： PMC492068 DOI： 10.1136/jnnp.38.8.761

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

10 in total

1. Familial centronuclear myopathy: a clinical and pathological study.

Authors: J H Sher; A B Rimalovski; T J Athanassiades; S M Aronson
Journal: Neurology Date: 1967-08 Impact factor: 9.910

2. 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

3. Myotonia induced by diazacholesterol: increased (Na+ + K+)-ATPase activity of erythrocyte ghosts and development of cataracts.

Authors: J B Peter; R M Andiman; R L Bowman; T Nagatomo
Journal: Exp Neurol Date: 1973-12 Impact factor: 5.330

4. Centronuclear myopathy with type I fiber atrophy and "myotubes".

Authors: J Bethlem; G K van Wijngaarden; M Mumenthaler; A E Meijer
Journal: Arch Neurol Date: 1970-07

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

Authors: A J Spiro; G M Shy; N K Gonatas
Journal: Arch Neurol Date: 1966-01

6. Centronuclear ("myotubular") myopathy.

Authors: T L Munsat; L R Thompson; R F Coleman
Journal: Arch Neurol Date: 1969-02

7. Familial "myotubular" myopathy.

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

8. Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures.

Authors: J Bethlem; G K van Wijngaarden; A E Meijer; W C Hülsmann
Journal: Neurology Date: 1969-07 Impact factor: 9.910

9. Myotubular, centronuclear or Peri-Centronuclear myopathy?

Authors: M J Campbell; J J Rebeiz; J N Walton
Journal: J Neurol Sci Date: 1969 May-Jun Impact factor: 3.181

10. Familial centronuclear myopathy.

Authors: W G Bradley; D L Price; C K Watanabe
Journal: J Neurol Neurosurg Psychiatry Date: 1970-10 Impact factor: 10.154

10 in total

5 in total

Review 5. Centronuclear (myotubular) myopathy.

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