BIOMAT Database Logo BIOMAT Database Logo

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. 2004

Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Institut für Humangenetik, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany. sibylle.jakubiczka@medizin.uni-magdeburg.de

Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, expanded alleles are often difficult to detect. In order to improve the diagnostic procedure, we applied a combination of pulsed-field gel electrophoresis and semi-quantitative Southern blot analysis with a novel hybridization probe. The combination of these methods led to unequivocal results in about 98% of cases with a clinical diagnosis of PROMM/DM 2. Furthermore, we report the genotype/phenotype correlation in a patient lacking a normal ZNF9 allele and a further proband with a "grey zone" allele.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009223 Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012091 Repetitive Sequences, Nucleic Acid Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). DNA Repetitious Region,Direct Repeat,Genes, Selfish,Nucleic Acid Repetitive Sequences,Repetitive Region,Selfish DNA,Selfish Genes,DNA, Selfish,Repetitious Region, DNA,Repetitive Sequence,DNA Repetitious Regions,DNAs, Selfish,Direct Repeats,Gene, Selfish,Repeat, Direct,Repeats, Direct,Repetitious Regions, DNA,Repetitive Regions,Repetitive Sequences,Selfish DNAs,Selfish Gene
D005260 Female Females
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia.
January 2017, SAGE open medical case reports,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy.
February 1997, Muscle & nerve,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Myotonic dystrophy type 2 presenting as inflammatory myopathy.
January 2016, Neurology India,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.
July 2001, Neuromuscular disorders : NMD,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2).
October 2000, Neuromuscular disorders : NMD,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Proximal myopathy and diffuse white matter involvement in myotonic dystrophy type I.
May 2002, Journal of neurology,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).
December 2003, Neuromuscular disorders : NMD,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
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.
October 2003, American journal of human genetics,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Proximal myotonic myopathy.
May 1995, Muscle & nerve,
Sibylle Jakubiczka, and Stefan Vielhaber, and Wolfram Kress, and Peter Küpferling, and Ulrike Reuner, and Bernhard Kunath, and Peter Wieacker
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.
January 1995, Archives of neurology,
Copied contents to your clipboard!