Document Detail

Heterozygote manifestation in recessive generalized myotonia.
MedLine Citation:
PMID:  437775     Owner:  NLM     Status:  MEDLINE    
The frequency of heterozygotes of recessive generalized myotonia may be estimated at about 1/108 in the German Federal Republic. Some heterozygotes can be identified by an EMG. However, apart from this, apparently 2%--5% of heterozygotes may show minor subclinical manifestations. Sporadic cases of myotonia with late onset and a history of preceding, extremely prolonged physical stress, undernourishment, and/or prolonged cold exposure may be due to heterozygote manifestations of this otherwise recessive gene. Late onset and sporadic appearance also are features in patients with myotonia associated with hypothyroidism. One male patient displayed myotonia after a protracted diabetic coma. In cases reported in the literature where myotonia developed in association with either propranolol (beta-adrenergic blocking agent) or fenoterolhydrobromide (stimulator of beta receptors) heterozygote manifestation of recessive generalized myotonia is suggested.
P E Becker
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  46     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1979 Feb 
Date Detail:
Created Date:  1979-07-25     Completed Date:  1979-07-25     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  325-9     Citation Subset:  IM    
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MeSH Terms
Cold Temperature
Diabetic Coma / complications
Fenoterol / adverse effects
Genes, Recessive*
Hypothyroidism / complications
Myotonia / etiology,  genetics*
Nutrition Disorders / complications
Propranolol / adverse effects
Stress, Physiological / complications
Reg. No./Substance:
13392-18-2/Fenoterol; 525-66-6/Propranolol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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