Literature DB >> 2709065

Congenital myopathy with myasthenic features and congenital cataract in two siblings.

Y Nishida1, T Kobayashi, M Machi, T Yamada, T Kitaguchi, K Oda, I Goto.   

Abstract

Two siblings with congenital myopathy showing myasthenic manifestations together with congenital cataract are reported. Their muscle weakness fluctuated and was alleviated by edrophonium chloride. Their serum creatine kinase activity was elevated, and the waning phenomenon was observed on repetitive nerve stimulation. Biopsied muscle showed degenerative changes with type 1 fibre predominance and abnormal morphology of neuromuscular junctions.

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Mesh：

Year:  1989        PMID： 2709065     DOI： 10.1007/BF00314333

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  7 in total

1.  On the classification, natural history and treatment of the myopathies.

Authors:  J N WALTON; F J NATTRASS
Journal:  Brain       Date:  1954       Impact factor: 13.501

2.  Terminal innervation ratio in neuromuscular disease. II. Disorders of lower motor neuron, peripheral nerve, and muscle.

Authors:  C Coërs; N Telerman-Toppet; J M Gerard
Journal:  Arch Neurol       Date:  1973-10

3.  Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features.

Authors:  B H Dobkin; M A Verity
Journal:  Neurology       Date:  1978-11       Impact factor: 9.910

4.  Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes.

Authors:  A G Engel
Journal:  J Neurol Neurosurg Psychiatry       Date:  1980-07       Impact factor: 10.154

5.  Familial limb-girdle myasthenia.

Authors:  M P McQuillen
Journal:  Brain       Date:  1966-03       Impact factor: 13.501

6.  Age changes of motor innervation and acetylcholine receptor distribution on human skeletal muscle fibres.

Authors:  K Oda
Journal:  J Neurol Sci       Date:  1984 Nov-Dec       Impact factor: 3.181

7.  Myasthenic neuromyopathy. An unusual neuromuscular disorder.

Authors:  M Kinoshita; H Nakazato; N Wakata; E Satoyoshi
Journal:  Eur Neurol       Date:  1982 Jan-Feb       Impact factor: 1.710
  7 in total
  1 in total

1.  Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.

Authors:  Piero Pavone; Andrea Domenico Praticò; Vito Pavone; Raffaele Falsaperla
Journal:  BMJ Case Rep       Date:  2013-01-29
  1 in total

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