CMT: Statistical Analysis and Revision of Genetic Diagnostics in a Population, Identification of the Disease Locus in a Family with CMT2, 2010 ...
Charcot-Marie-Tooth disease (CMT); Statistical analysis and revision of molecular genetic diagnostics in a patient populations and identification of the disease locus in a large Norwegian family with CMT. CMT is the largest group of inherited polyneuropathies and a large number of genes are associat...
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| Format: | Dataset |
| Language: | unknown |
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Sikt - Norwegian Agency for Shared Services in Education and Research
2024
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| Online Access: | https://dx.doi.org/10.18712/nsd-nsd2100-v2 https://surveybanken.sikt.no/study/NSD2100/2 |
| Summary: | Charcot-Marie-Tooth disease (CMT); Statistical analysis and revision of molecular genetic diagnostics in a patient populations and identification of the disease locus in a large Norwegian family with CMT. CMT is the largest group of inherited polyneuropathies and a large number of genes are associated with the condition. The Department of Medical Genetics at the University Hospital of North-Norway is a part of the National Neuromuscular Centre. Patients with CMT constitute a significant fraction of the patients at the Centre. The diagnostics poses significant challenges due to clinical and genetic heterogeneity. Our research project consists of two parts that both will contribute increased knowledge about CMT and to improved diagnostic services for patients with CMT. Part 1:"Six years experience of molecular genetic testing for Charcot-Marie-Tooth disease at the Department of Medical Genetics in Tromsø". We will revise all CMT requisitions from the period 2004-2009 and evaluate if all patients have been ... |
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