Literature DB >> 7966187

Paternal transmission of congenital myotonic dystrophy.

J Bergoffen1, J Kant, J Sladky, D McDonald-McGinn, E H Zackai, K H Fischbeck.   

Abstract

The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.

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Year:  1994        PMID： 7966187      PMCID： PMC1049972          DOI： 10.1136/jmg.31.7.518

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


  16 in total

1.  Genetic risks for children of women with myotonic dystrophy.

Authors:  M C Koch; T Grimm; H G Harley; P S Harper
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Anticipation in myotonic dystrophy: new light on an old problem.

Authors:  P S Harper; H G Harley; W Reardon; D J Shaw
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

3.  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

4.  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

5.  The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

Authors:  A Hunter; C Tsilfidis; G Mettler; P Jacob; M Mahadevan; L Surh; R Korneluk
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

6.  Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Authors:  C Tsilfidis; A E MacKenzie; G Mettler; J Barceló; R G Korneluk
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

7.  Reversal of developmental delays in iron-deficient anaemic infants treated with iron.

Authors:  P Idjradinata; E Pollitt
Journal:  Lancet       Date:  1993-01-02       Impact factor: 79.321

8.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

9.  Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Authors:  M Anvret; G Ahlberg; U Grandell; B Hedberg; K Johnson; L Edström
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

10.  Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; J C MacMillan; J Myring; J D Brook; S Crow; W Reardon; I Fenton; D J Shaw; P S Harper
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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  7 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 type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Authors:  Fernando Morales; Eyleen Corrales; Baili Zhang; Melissa Vásquez; Carolina Santamaría-Ulloa; Hazel Quesada; Mario Sirito; Marcos R Estecio; Darren G Monckton; Ralf Krahe
Journal:  Hum Mol Genet       Date:  2021-12-27       Impact factor: 5.121

Review 3.  Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.

Authors:  Ian S Mutchnick; Meena A Thatikunta; William C Gump; Dan L Stewart; Thomas M Moriarty
Journal:  Childs Nerv Syst       Date:  2016-01-08       Impact factor: 1.475

Review 4.  Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Authors:  Samantha LoRusso; Benjamin Weiner; W David Arnold
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

5.  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

6.  CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Authors:  Lise Barbé; Stella Lanni; Arturo López-Castel; Silvie Franck; Claudia Spits; Kathelijn Keymolen; Sara Seneca; Stephanie Tomé; Ioana Miron; Julie Letourneau; Minggao Liang; Sanaa Choufani; Rosanna Weksberg; Michael D Wilson; Zdenek Sedlacek; Cynthia Gagnon; Zuzana Musova; David Chitayat; Patrick Shannon; Jean Mathieu; Karen Sermon; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

Review 7.  Molecular genetics and genetic testing in myotonic dystrophy type 1.

Authors:  Dušanka Savić Pavićević; Jelena Miladinović; Miloš Brkušanin; Saša Šviković; Svetlana Djurica; Goran Brajušković; Stanka Romac
Journal:  Biomed Res Int       Date:  2013-03-18       Impact factor: 3.411
  7 in total

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