Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family-Reference-Cited by-同舟云学术

Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

Published:2015-05-07 Issue:4 Volume:87 Page:448-450
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Palmio Johanna,Evilä Anni,Bashir Ayat,Norwood Fiona,Viitaniemi Kati,Vihola Anna,Huovinen Sanna,Straub Volker,Hackman Peter,Hirano Michio,Bushby Kate,Udd Bjarne

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference12 articles.

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2. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3;Senderek;Am J Hum Genet,2009

3. Phenotype of matrin-3-related distal myopathy in 16 German patients;Müller;Ann Neurol,2014

4. Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation;Yamashita;Neuropathol Appl Neurobiol,2014

5. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis;Johnson;Nat Neurosci,2014

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