Document Detail


Myopathies with abnormal mitochondria. A clinical, histological, and electrophysiological study.
MedLine Citation:
PMID:  65099     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Among 135 consecutive patients with myopathy, 17 showed abnormalities in the mitochondria of muscle. In eight of these patients the abnormalities were demonstrated by electron microscopy. In all patients Gömöri trichome stain showed red masses at the sites of the mitochondria and diformazan deposits when stained for mitochondrial enzymes. The patients could be divided into three groups: i) Nine patients had weakness of the extra-ocular muscles, either alone or associated with weakness of skeletal muscles and non-muscular signs. One patient with the oculo-cranio-somatic syndrome had two affected sibs. ii) Four patients had a facioscapulohumeral distribution of weakness. Three (two sisters and a maternal aunt) were in the same family, and the fourth patient had an affected sister. iii) Four patients were clinically heterogeneous. When mitochondrial alterations were the only pathological change in many fibers in a muscle, they were most often associated with an ocular or oculo-cranio-somatic syndrome. Electromyography showed changes indicating or suggestive of myopathy in all but one patient. There was a discrepancy between severe changes in the EMG and nearly normal fibers by hematoxylin and eosin and van Gieson stains. Serum creatine kinase was increased in 10 of 17 patients, in most 2-4 times the upper limit of normal.
Authors:
Z Kamieniecka
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  55     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  1977 Jan 
Date Detail:
Created Date:  1977-03-15     Completed Date:  1977-03-15     Revised Date:  2013-03-26    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  57-75     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Action Potentials
Adenosine Triphosphatases / metabolism
Adolescent
Adult
Aged
Electromyography
Female
Humans
Inclusion Bodies / ultrastructure
Male
Middle Aged
Mitochondria, Muscle / enzymology,  ultrastructure*
Muscle Contraction
Muscles / enzymology,  ultrastructure
Muscular Diseases / enzymology,  pathology*,  physiopathology
NADPH Dehydrogenase / metabolism
Oculomotor Muscles / enzymology,  ultrastructure
Staining and Labeling
Chemical
Reg. No./Substance:
EC 1.6.99.1/NADPH Dehydrogenase; EC 3.6.1.-/Adenosine Triphosphatases

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