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Dominant myotonia congenita: Pedigree with skipping of one generation (1980)

Boltshauser, E. ; Meyer, M. ; Metaxas, M. ; [et al.]

Springer

Journal of neurology 222 (1980), S. 235-238

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ISSN: 1432-1459

Keywords: Dominant myotonia congenita ; Genetic counselling

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Description / Table of Contents: Zusammenfassung In einer Sippe mit dominant vererbter Myotonia congenita wurde das „Überspringen“ einer Generation beobachtet. Fehlende Penetranz scheint daher bei dieser Affektion vorzukommen. Diese Möglichkeit sollte bei der genetischen Beratung berücksichtigt werden.

Notes: Summary The skipping of one generation in a family pedigree with dominant myotonia congenita is reported. It is suggested that non-penetrance in this condition occurs and should be considered in genetic counselling as a rare, but realistic possibility.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00313152

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