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0442 Heterozygous R1101K mutation of the DCTN1 gene in a family with amyotrophic lateral sclerosis and frontotemporal dementia


Book ID
119466986
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
125 KB
Volume
238
Category
Article
ISSN
0022-510X

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Heterozygous R1101K mutation of the DCTN
✍ Christoph MΓΌnch; Angela Rosenbohm; Anne-Dorte Sperfeld; Ingo Uttner; Sven Reske; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 561 KB

## Abstract A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co‐occurrence of frontotemporal dementia (FTD). Two members of our kindred were affected with motor neuron disease and two with dementia in an auto