Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS

The authors report mutation screening of the p150 subunit of dynactin (DCTN1) and the cytoplasmic dynein heavy chain (DNCHC1) genes in 250 patients with ALS and 150 unrelated control subjects. Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T12...

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Veröffentlicht in:	Neurology 2004-08, Vol.63 (4), p.724-726
Hauptverfasser:	MÜNCH, C, SEDLMEIER, R, LUDOLPH, A. C, MEYER, T, HOMBERG, V, SPERFELD, A. D, KURT, A, PRUDLO, J, PERAUS, G, HANEMANN, C. O, STUMM, G
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Aged, 80 and over Alleles Amino Acid Substitution Amyotrophic Lateral Sclerosis - genetics Biological and medical sciences DNA Mutational Analysis Dynactin Complex Dyneins - genetics Exons - genetics Female Genetic Predisposition to Disease Genetic Testing Genotype Heteroduplex Analysis Humans Male Medical sciences Microtubule-Associated Proteins - genetics Microtubule-Associated Proteins - physiology Middle Aged Mutation, Missense Neurology Pedigree Phenotype Point Mutation Polymerase Chain Reaction Protein Subunits Risk Factors
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