This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 2019 Jul;60(1):E3-E4.

doi: 10.1002/mus.26494. Epub 2019 Apr 29.

Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE

Robert J Marquardt¹, Yuebing Li¹

Affiliations

PMID: 31018245
DOI: 10.1002/mus.26494

Case Reports

Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE

Robert J Marquardt et al. Muscle Nerve. 2019 Jul.

. 2019 Jul;60(1):E3-E4.

doi: 10.1002/mus.26494. Epub 2019 Apr 29.

Authors

Robert J Marquardt¹, Yuebing Li¹

Affiliation

¹ Neuromuscular Center, Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.

PMID: 31018245
DOI: 10.1002/mus.26494

No abstract available

Keywords: COL13A1; congenital myasthenic syndrome; loss of function mutation; neuromuscular junction; neuromuscular transmission; ptosis.

PubMed Disclaimer

Similar articles

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Brain. 2019. PMID: 31081514 Free PMC article.
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J. Dusl M, et al. J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14. J Neurol. 2019. PMID: 30767057
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D. Logan CV, et al. Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25. Am J Hum Genet. 2015. PMID: 26626625 Free PMC article.
Congenital myasthenic syndromes: an update.
Finlayson S, Beeson D, Palace J. Finlayson S, et al. Pract Neurol. 2013 Apr;13(2):80-91. doi: 10.1136/practneurol-2012-000404. Pract Neurol. 2013. PMID: 23468559 Review. No abstract available.
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. Curr Opin Neurol. 2004. PMID: 15367858 Review.

See all similar articles

Cited by

Expression of Collagen XIII in Tissues of the Thyroid and Orbit With Relevance to Thyroid-Associated Ophthalmopathy.
Norman O, Vornanen T, Franssila H, Liinamaa J, Karvonen E, Kotkavaara T, Pohjanen VM, Ylikärppä R, Pihlajaniemi T, Hurskainen M, Heikkinen A. Norman O, et al. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):6. doi: 10.1167/iovs.65.4.6. Invest Ophthalmol Vis Sci. 2024. PMID: 38564194 Free PMC article.
Contribution of collagen XIII to lung function and development of pulmonary fibrosis.
Norman O, Koivunen J, Kaarteenaho R, Salo AM, Mäki JM, Myllyharju J, Pihlajaniemi T, Heikkinen A. Norman O, et al. BMJ Open Respir Res. 2023 Dec 12;10(1):e001850. doi: 10.1136/bmjresp-2023-001850. BMJ Open Respir Res. 2023. PMID: 38568728 Free PMC article.
Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
Kediha MI, Tazir M, Sternberg D, Eymard B, Alipacha L. Kediha MI, et al. J Med Case Rep. 2022 Mar 26;16(1):134. doi: 10.1186/s13256-022-03268-z. J Med Case Rep. 2022. PMID: 35337379 Free PMC article.
Transmembrane Collagens in Neuromuscular Development and Disorders.
Wakabayashi T. Wakabayashi T. Front Mol Neurosci. 2021 Jan 18;13:635375. doi: 10.3389/fnmol.2020.635375. eCollection 2020. Front Mol Neurosci. 2021. PMID: 33536873 Free PMC article. Review.
The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis.
Kemppainen AV, Finnilä MA, Heikkinen A, Härönen H, Izzi V, Kauppinen S, Saarakkala S, Pihlajaniemi T, Koivunen J. Kemppainen AV, et al. Sci Rep. 2022 Apr 7;12(1):5866. doi: 10.1038/s41598-022-09653-4. Sci Rep. 2022. PMID: 35393492 Free PMC article.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley