Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1-Reference-Cited by-同舟云学术

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Published:2014-11-26 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Dorboz Imen,Coutelier Marie,Bertrand Anne T,Caberg Jean-Hubert,Elmaleh-Bergès Monique,Lainé Jeanne,Stevanin Giovanni,Bonne Gisèle,Boespflug-Tanguy Odile,Servais Laurent

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0174-9.pdf

Reference15 articles.

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2. Bertrand AT, Chikhaoui K, Ben Yaou R, Bonne G: Clinical and genetic heterogeneity in laminopathies. Bioch Soc Trans. 2011, 39 (6): 1687-1692. 10.1042/BST20110670.

3. Cattin ME, Bertrand AT, Schlossarek S, Le Bihan MC, Skov Jensen S, Neuber C, Crocini C, Maron S, Lainé J, Mougenot N, Varnous S, Fromes Y, Hansen A, Eschenhagen T, Decostre V, Carrier L, Bonne G: Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity. Hum Mol Genet. 2013, 22 (15): 3152-3164. 10.1093/hmg/ddt172.

4. Kim CE1, Perez A, Perkins G, Ellisman MH, Dauer WT: A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A. 2010, 107 (21): 9861-9866. 10.1073/pnas.0912877107.

5. De Carvalho Aguiar PM, Ozelius LJ: Classification and genetics of dystonia. Lancet Neurol. 2002, 1 (5): 316-325. 10.1016/S1474-4422(02)00137-0.

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