Literature DB >> 8064819

A case of paternally inherited congenital myotonic dystrophy.

M Nakagawa1, H Yamada, I Higuchi, Y Kaminishi, T Miki, K Johnson, M Osame.   

Abstract

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the two CDM sisters. This family shows that exceptionally it is possible for CDM to be inherited paternally and refutes the hypothesis that CDM is exclusively of maternal origin. This contradicts several of the previous hypotheses concerning the mechanisms by which the CDM phenotype arises.

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Year:  1994        PMID： 8064819      PMCID： PMC1049873          DOI： 10.1136/jmg.31.5.397

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

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Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

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3.  Explanation for exclusive maternal origin for congenital form of myotonic dystrophy.

Authors:  J C Mulley; A Staples; A Donnelly; A K Gedeon; B K Hecht; G A Nicholson; E A Haan; G R Sutherland
Journal:  Lancet       Date:  1993-01-23       Impact factor: 79.321

4.  Sex-related difference in intergenerational expansion of myotonic dystrophy gene.

Authors:  A M Cobo; M Baiget; A López de Munain; J J Poza; J I Emparanza; K Johnson
Journal:  Lancet       Date:  1993-05-01       Impact factor: 79.321

5.  Anticipation in myotonic dystrophy: fact or fiction?

Authors:  C J Höweler; H F Busch; J P Geraedts; M F Niermeijer; A Staal
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6.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors:  M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

7.  An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors:  Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

8.  Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Authors:  J Davies; H Yamagata; P Shelbourne; J Buxton; T Ogihara; P Nokelainen; M Nakagawa; R Williamson; K Johnson; T Miki
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

9.  Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Authors:  P Shelbourne; R Winqvist; E Kunert; J Davies; J Leisti; H Thiele; H Bachmann; J Buxton; B Williamson; K Johnson
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

10.  Negative expansion of the myotonic dystrophy unstable sequence.

Authors:  D Abeliovich; I Lerer; I Pashut-Lavon; E Shmueli; A Raas-Rothschild; M Frydman
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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  5 in total

1.  Paternal transmission of congenital myotonic dystrophy.

Authors:  C E de Die-Smulders; H J Smeets; W Loots; H B Anten; J F Mirandolle; J P Geraedts; C J Höweler
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

2.  Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

Authors:  M R Passos-Bueno; A Cerqueira; M Vainzof; S K Marie; M Zatz
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

3.  Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

Authors:  A López de Munain; A M Cobo; J J Poza; D Navarrete; L Martorell; F Palau; J I Emparanza; M Baiget
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

4.  Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Authors:  Isis B T Joosten; Debby M E I Hellebrekers; Bianca T A de Greef; Hubert J M Smeets; Christine E M de Die-Smulders; Catharina G Faber; Monique M Gerrits
Journal:  Eur J Hum Genet       Date:  2020-03-12       Impact factor: 4.246

5.  Meiotic drive at the myotonic dystrophy locus.

Authors:  M Gennarelli; B Dallapiccola; M Baiget; L Martorell; G Novelli
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  5 in total

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