Literature DB >> 8190210

Anticipation in myotonic dystrophy: a parental-sex-related phenomenon.

A López de Munain1, A Blanco, J I Emparanza, J F Martí Massó, A Cobo, B Basauri, L Martorell, M Baiget, J M Martínez Lage.   

Abstract

We report anticipation in an extensive sample of myotonic dystrophy (MyD) kindreds taken from an epidemiological survey recently conducted in Guipúzcoa, Spain. Analysis of the parent-child pairs ascertained showed a mean anticipation of 2.86 decades (range 0-6). Greater anticipation occurred when the transmissor parent was the mother. These results suggest a possible sex-related effect in the transmission of the MyD gene, and are in agreement with recent discoveries at the molecular level.

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Year:  1994        PMID: 8190210     DOI: 10.1159/000110362

Source DB:  PubMed          Journal:  Neuroepidemiology        ISSN: 0251-5350            Impact factor:   3.282


  4 in total

1.  Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Authors:  Fernando Morales; Melissa Vásquez; Patricia Cuenca; Domingo Campos; Carolina Santamaría; Gerardo Del Valle; Roberto Brian; Mauricio Sittenfeld; Darren G Monckton
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

2.  Paternal transmission and anticipation in schizophrenia.

Authors:  J Husted; L E Scutt; A S Bassett
Journal:  Am J Med Genet       Date:  1998-03-28

3.  Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy.

Authors:  Cheonga Yee; Suk-Joo Choi; Soo-Young Oh; Chang-Seok Ki; Cheong-Rae Roh; Jong-Hwa Kim
Journal:  Obstet Gynecol Sci       Date:  2017-07-14

Review 4.  Muscle wasting in myotonic dystrophies: a model of premature aging.

Authors:  Alba Judith Mateos-Aierdi; Maria Goicoechea; Ana Aiastui; Roberto Fernández-Torrón; Mikel Garcia-Puga; Ander Matheu; Adolfo López de Munain
Journal:  Front Aging Neurosci       Date:  2015-07-09       Impact factor: 5.750

  4 in total

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