Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
نویسندگان
چکیده
Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget and Véronique Paquis-Flucklinger
منابع مشابه
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
1 Department of Neurology, Ulm University, Ulm, Germany 2 Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden 3 Virtual Helmholtz Institute RNA Dysmetabolism in Amyotrophic Lateral Sclerosis and Fronto-Temporal Dementia, Germany 4 Institute of Human Genetics, Ulm University, Ulm, Germany 5 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, German...
متن کاملLETTER TOTHE EDITOR A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
Sir, Emerging data provide evidence for CHCHD10 as a new candidate gene in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al., 2014; Johnson et al., 2014; Müller et al., 2014). This gene encodes a mitochondrial protein located in the intermembrane space (Bannwarth et al., 2014). Mutant CHCHD10 may lead to altered mitochondrial genome stability and m...
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متن کاملA distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Sir, Emerging data provide evidence for CHCHD10 as a new candidate gene in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al., 2014; Johnson et al., 2014; Müller et al., 2014). This gene encodes a mitochondrial protein located in the intermembrane space (Bannwarth et al., 2014). Mutant CHCHD10 may lead to altered mitochondrial genome stability and m...
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عنوان ژورنال:
- Brain : a journal of neurology
دوره 137 Pt 12 شماره
صفحات -
تاریخ انتشار 2014