Results 121 to 130 of about 799 (137)

[CTG-repeat in myotonin protein kinase].

Rinsho shinkeigaku = Clinical neurology, 1995
Myotonic dystrophy (DM) is one of the most common inherited neuromuscular diseases in adults with a global incidence of 1 in 20,000 individuals. DM is an autosomal dominant disorder characterized primarily by myotonia and progressive muscle weakness. DM has unique genetic feature of anticipation, that is, increasing disease severity from generation to ...
H, Sorimachi, N, Sasagawa, K, Maruyama, K, Arahata, S, Ishiura, K, Suzuki   +5 more
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Direct Detection of Expanded (CAG/CTG) Repeats in the Myotonin-Protein Kinase Genes of Myotonic Dystrophy Patients Using a High-Stringency Hybridization Method

Biochemical and Biophysical Research Communications, 1995
Recent discoveries of genes containing (CAG/CTG) repeats as the causative genes for neuromuscular diseases suggest that trinucleotide repeat expansions are associated with a number of other neurodegenerative diseases, particularly in those showing genetic anticipation. In order to efficiently identify expanded trinucleotide repeats, we have developed a
K, Sanpei, S, Igarashi, I, Eguchi, Y, Takiyama, H, Tanaka, S, Tsuji   +5 more
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[Population analysis CTG trinucleotide repeats in the myotonin-protein kinase I gene].

Genetika, 1998
CTG trinucleotide repeat length polymorphism within the 3' region of the myotonin protein kinase I (MP-I) gene was examined with the use of the polymerase chain reaction (PCR) technique. A total of 159 DNA samples from healthy donors from five ethnic groups including Russians (n = 33), Azerbaijanians (n = 29), Uzbeks (n = 31), Moldavians (n = 31), and ...
T E, Ivashchenko, P B, Glazkov, N N, Khromov-Borisov, V S, Baranov   +3 more
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Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

Molecular Biology, 2005
The allele frequency distribution of the (CTG)n repeat located in the 3′-terminal region of the myotonin protein kinase gene (DMPK) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups.
S. A. Fedorova, R. I. Khusainova, I. A. Kutuev, A. L. Sukhomyasova, I. A. Nikolaeva, S. S. Kulichkin, V. L. Akhmetova, A. Z. Salimova, G. S. Svyatova, G. M. Berezina, F. A. Platonov, E. K. Khusnutdinova   +11 more
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[Physiological function of myotonin protein kinase].

Nihon rinsho. Japanese journal of clinical medicine, 1998
The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3'-noncoding region of the myotonin protein kinase (MtPK) gene mapping to chromosome 19q13.3. A full-length cDNA of human MtPK was cloned and expressed in COS-1 cells. We purified native full-length MtPK from rat skeletal muscle.
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[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, 2002
A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination.
I M, Khidiiatova, R I, Fatkhlislamova, R V, magzhanov, S N, Popova, P A, Slominskiĭ, S A, Limborskaia, E K, Khusnutdinova   +6 more
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Association of CTG repeats and the 1-kbAlu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation

Human Genetics, 1996
We have studied linkage disequilibrium between CTG repeats and an Alu insertion/deletion polymorphism at the myotonin protein kinase gene (DMPK) in 102 Japanese families, of which 93 were affected with myotonic dystrophy (DM). All of the affected chromosomes are in complete linkage disequilibrium with the Alu insertion allele.
H, Yamagata, T, Miki, M, Nakagawa, K, Johnson, R, Deka, T, Ogihara   +5 more
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[Polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene in Belarussian populations: analysis of interethnic heterogeneity].

Genetika, 1999
The highly polymorphic CTG triplet repeat in the 3'-nontranscribed region of the myotonin protein kinase (DM) gene was studied in healthy people from three rural populations (Grodnenskii, Khoinikskii, and Nesvizhskii raions) and the town Bobruisk, Belarus.
S N, Popova, A I, Mikulich, P A, Slominskiĭ, M I, Shadrina, M A, Pomazanova, S A, Limborskaia   +5 more
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[Normal polymorphism of the (CTG)n repeat in the myotonin protein kinase (DM) gene on chromosome 19q13.3 in Western European populations].

Genetika, 2000
Polymorphism of a highly polymorphic CTG repeat in the 3'-untranslated region of the myotonin protein kinase gene was analyzed in healthy people from several Eastern European populations (Russians, Moldovans, Belarussians, Komis, Chuvashes, Udmurts, Bashkirs, Tatars, Maris, and Mordovians).
P A, Slominskiĭ, S N, Popova, M I, Shadrina, M A, Pomazanova, T Iu, Lomova, R I, Fatkhlislamova, E K, Khusnutdinova, I A, Guseva, Sh, Erdes, A I, Mikulich, V A, Spitsyn, S A, Limborskaia   +11 more
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[Cataract as an only clinical manifestation of myotonic dystrophy--a new example of somatic instability of CTG repeats expansion in myotonin protein kinase gene].

Rinsho shinkeigaku = Clinical neurology, 1998
We reported a 69-year-old woman who developed a cataract as a single clinical expression of myotonic dystrophy (MD). There are many MD patients in her family including her 29-year-old daughter suffering from congenital MD. We compared CTG repeats expansion in the motonin protein kinase gene from the lens obtained at operation with that of her and her ...
Y, Saito, K, Sato, M, Kawai
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