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December 1, 1994Journal of Medical GeneticsOpen Access

Meiotic drive at the myotonic dystrophy locus.

Massimo Gennarelli Bruno Dallapiccola Montserrat Baiget Loreto Martorell Giuseppe Novelli

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Abstract

The mutation underlying myotonic dystrophy (DM, MIM* 160900) is the expansion of a CTG trinucleotide repeat sequence at the 3' untranslated region of a protein kinase gene (MT-PK).' The kinetics of this process is influenced by the sex of the transmitting par- ent and size of the parental allele.2 Con- genital DM (CDM) occurs almost always with maternal transmission. Only two patients with CDM have proven paternal

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Gennarelli et al. (1994) studied this question.

synapsesocial.com/papers/6a99c274b3ce0225317b8b84 https://doi.org/10.1136/jmg.31.12.980

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Synapse has enriched 5 related papers. Consider them for comparative context:

1A case of paternally inherited congenital myotonic dystrophy.Original Research · 1994 · 38 citations
2COMMENTARY: Myotonic dystrophy reviewed: back to the future?Original Research · 1994 · 86 citations
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