晚发型远端肌病：一种新的伴肌联蛋白病。 - Suppr

Late onset distal myopathy: A new telethoninopathy.

作者信息

Blanco-Palmero Víctor Antonio, Hernández-Laín Aurelio, Uriarte-Pérez de Urabayen David, Cantero-Montenegro Diana, Olivé Montse, Domínguez-González Cristina

机构信息

Servicio de Neurología, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041 Madrid, Spain.

Servicio de Neuropatología, Hospital Universitario 12 de Octubre, Spain.

出版信息

Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13.

DOI:10.1016/j.nmd.2018.11.001

PMID:30553702

Abstract

摘要

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Late onset distal myopathy: A new telethoninopathy.

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Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.

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Distal myopathies.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15.

Distal myopathy with ADSSL1 mutations in Korean patients.

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Late onset distal myopathy: A new telethoninopathy.

作者信息

Blanco-Palmero Víctor Antonio, Hernández-Laín Aurelio, Uriarte-Pérez de Urabayen David, Cantero-Montenegro Diana, Olivé Montse, Domínguez-González Cristina

机构信息

Servicio de Neurología, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041 Madrid, Spain.

Servicio de Neuropatología, Hospital Universitario 12 de Octubre, Spain.

出版信息

Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13.

DOI:10.1016/j.nmd.2018.11.001

PMID:30553702

Abstract

摘要

相似文献

Late onset distal myopathy: A new telethoninopathy.

Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13.

Concentric muscle involvement in POLG-related distal myopathy.

Neuromuscul Disord. 2017 May;27(5):500-501. doi: 10.1016/j.nmd.2017.03.001. Epub 2017 Mar 7.

Lower limb radiology of distal myopathy due to the S60F myotilin mutation.

Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26.

Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study.

Radiology. 2015 Nov;277(2):546-54. doi: 10.1148/radiol.2015142212. Epub 2015 Jun 2.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.

Neuropathology. 2016 Oct;36(5):485-489. doi: 10.1111/neup.12297. Epub 2016 Mar 7.

Distal myopathies.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15.

Distal myopathy with ADSSL1 mutations in Korean patients.

Neuromuscul Disord. 2017 May;27(5):465-472. doi: 10.1016/j.nmd.2017.02.004. Epub 2017 Feb 14.

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Neuromuscul Disord. 2016 Aug;26(8):511-5. doi: 10.1016/j.nmd.2016.05.012. Epub 2016 May 24.

Late onset distal myopathy: A new telethoninopathy.

作者信息

机构信息

出版信息

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Late onset distal myopathy: A new telethoninopathy.

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