| | |  | | | | Record from Web of Science® | | | | | | |
| DENOVO MUTATION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-1 |
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| Author(s): HOOGENDIJK JE, HENSELS GW, GABREELSFESTEN AAWM, GABREELS FJM, JANSSEN EAM, DEJONGHE P, MARTIN JJ, VANBROECKHOVEN C, VALENTIJN LJ, BAAS F, DEVISSER M, BOLHUIS PA |
| Source: LANCET Volume: 339 Issue: 8801 Pages: 1081-1082 Published: MAY 2 1992 |
| Times Cited: 149 References: 9 |
| Abstract: Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I. |
| Document Type: Note |
| Language: English |
| Reprint Address: HOOGENDIJK, JE (reprint author), UNIV AMSTERDAM, ACAD MED CTR, DEPT NEUROL, MEIBERGDREEF 9, 1105 AZ AMSTERDAM, NETHERLANDS |
Addresses:
1. UNIV HOSP NIJMEGEN, INST NEUROL, NIJMEGEN, NETHERLANDS
2. UNIV INSTELLING ANTWERP, NEUROGENET LAB, B-2610 WILRIJK, BELGIUM |
| Publisher: LANCET LTD, 42 BEDFORD SQUARE, LONDON, ENGLAND WC1B 3SL |
| Subject Category: Medicine, General & Internal |
| IDS Number: HR446 |
| ISSN: 0140-6736 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |