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| THE GENE FOR MACHADO-JOSEPH DISEASE MAPS TO HUMAN CHROMOSOME-14Q |
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| Author(s): TAKIYAMA Y, NISHIZAWA M, TANAKA H, KAWASHIMA S, SAKAMOTO H, KARUBE Y, SHIMAZAKI H, SOUTOME M, ENDO K, OHTA S, KAGAWA Y, KANAZAWA I, MIZUNO Y, YOSHIDA M, YUASA T, HORIKAWA Y, OYANAGI K, NAGAI H, KONDO T, INUZUKA T, ONODERA O, TSUJI S |
| Source: NATURE GENETICS Volume: 4 Issue: 3 Pages: 300-304 Published: JUL 1993 |
| Times Cited: 251 References: 39 |
| Abstract: Machado-Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese-Azorean descent, MJD has also been described in non-Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3-q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Z(max) = 9.719). |
| Document Type: Article |
| Language: English |
Addresses:
1. JICHI MED SCH, DEPT NEUROL, MINAMI KAWACHI, TOCHIGI 32904 JAPAN
2. JICHI MED SCH, DEPT BIOCHEM, MINAMI KAWACHI, TOCHIGI 32904 JAPAN
3. JUNTENDO UNIV, FAC MED, DEPT NEUROL, TOKYO 113, JAPAN
4. NIIGATA UNIV, DEPT NEUROL, NIIGATA 951, JAPAN
5. NIIGATA UNIV, CTR MAT BRAIN DIS, NIIGATA 951, JAPAN
6. UNIV TOKYO, INST BRAIN RES, DEPT NEUROL, TOKYO 113, JAPAN
7. TOKYO MED & DENT UNIV, FAC MED, DEPT NEUROL, TOKYO 113, JAPAN
8. SHINRAKUEN HOSP, DEPT NEUROL, NIIGATA 95021, JAPAN
9. SUIBARAGO HOSP, DEPT NEUROL, NIIGATA 95921, JAPAN
10. AGANO HOSP, DEPT NEUROL, YASUDA, NIIGATA 95922 JAPAN |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: LJ842 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |