+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Haplotype analysis of congenital myotonic dystrophy patients from asymptomatic DM father



Haplotype analysis of congenital myotonic dystrophy patients from asymptomatic DM father



Pediatric Neurology 16(4): 315-318



We report a family with congenital myotonic dystrophy (CDM) transmitted from an asymptomatic DM father; we analyzed the haplotype of this family by using polymorphism within and by flanking the DM protein kinase locus. One patient with congenital DM was homozygous for all markers studied, except for the expanded CTG repeats. Two other patients with congenital DM were heterozygous. One patient with congenital DM who was homozygous had greater clinical severity and more expanded CTG repeats than other CDM patients who were heterozygous. The asymptomatic father had a DM protomutation.

(PDF emailed within 0-6 h: $19.90)

Accession: 046211973

Download citation: RISBibTeXText

PMID: 9258965

DOI: 10.1016/s0887-8994(97)00042-8


Related references

Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene. Neurology 44(10): 1958-1960, 1994

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. American Journal of Human Genetics 73(4): 835-848, 2003

A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. American Journal of Human Genetics 62(6): 1389-1402, 1998

Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: Direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers. Brain & Development 18(2): 122-126, 1996

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: Implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. European Journal of Human Genetics 9(8): 638-641, 2001

Transmission of congenital myotonic dystrophy by a clinically unaffected father. American Journal of Human Genetics 61(4 SUPPL ): A96, 1997

Allelic polymorphism and analysis of haplotypes of the muscle protein kinase genes and haplotype analysis in residents of northwestern Russia and patients with myotonic dystrophy. Genetika 34(2): 295-299, 1998

Congenital myotonic dystrophy with asymptomatic mother. Indian Pediatrics 48(7): 565-567, 2012

Analysis of the CTG trinucleotide repeat expansion in patients with congenital myotonic dystrophy. Sapporo Medical Journal 66(3-4): 169-182, 1997

Effect of triplet repeat number on myotonic dystrophy protein kinase mRNA levels in adult and congenital myotonic dystrophy. Journal of Cellular Biochemistry Supplement 0(18D): 528, 1994

The myotonic dystrophy gene product is a tyrosine/serine kinase Decreased levels of M-PK activity are associated with the congenital and adult forms of myotonic dystrophy. American Journal of Human Genetics 55(3 SUPPL ): A18, 1994

A global haplotype analysis of myotonic dystrophy cTG-repeats in humans and other primates. American Journal of Human Genetics 57(4 SUPPL ): A42, 1995

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population. Annals of Clinical and Laboratory Science 40(2): 156-162, 2010

Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. American Journal of Pathology 162(3): 1001-1009, 2003

Expression of the myotonic dystrophy locus-associated homeodomain protein in congenital myotonic dystrophy. Journal of Child Neurology 14(7): 471-473, 1999