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| CHARCOT-MARIE-TOOTH DISEASE IN NORTHERN SWEDEN - PEDIGREE ANALYSIS AND THE PRESENCE OF THE DUPLICATION IN CHROMOSOME 17P11.2 |
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| Author(s): HOLMBERG BH, HOLMGREN G, NELIS E, VANBROECKHOVEN C, WESTERBERG B |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 31 Issue: 6 Pages: 435-441 Published: JUN 1994 |
| Times Cited: 10 References: 27 |
| Abstract: Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type I and autosomal dominant inheritance and in all these cases the duplication was seen. In six patients in three families with Charcot-Marie-Tooth type I the pedigrees strongly suggested autosomal recessive inheritance. In two patients DNA analysis was not informative but in the others no duplication was shown. There were also II ''sporadic'' patients and one pair of sibs classified as Charcot-Marie-Tooth type 1, but there was no duplication shown although in four patients DNA analysis was not informative. In nine patients with Charcot-Marie-Tooth type 2 from five families and in 13 unaffected relatives of Charcot-Marie-Tooth patients the CMT1a duplication was not found. |
| Document Type: Article |
| Language: English |
Addresses:
1. UMEA UNIV HOSP, DEPT NEUROL, S-90185 UMEA, SWEDEN
2. UNIV ANTWERP, BORN BUNGE FDN, DEPT BIOCHEM, NEUROGENET LAB, B-2020 ANTWERP, BELGIUM
3. OSTRA HOSP, DEPT PAEDIAT, S-41685 GOTHENBURG, SWEDEN |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: NP423 |
| ISSN: 0022-2593 |
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