Literature DB >> 31018245

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

Robert J Marquardt1, Yuebing Li1.   

Abstract

Entities:  

Keywords:  zzm321990COL13A1; congenital myasthenic syndrome; loss of function mutation; neuromuscular junction; neuromuscular transmission; ptosis

Mesh：

Substances：

Year:  2019        PMID： 31018245     DOI： 10.1002/mus.26494

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  2 in total

1.  The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis.

Authors:  A V Kemppainen; M A Finnilä; A Heikkinen; H Härönen; V Izzi; S Kauppinen; S Saarakkala; T Pihlajaniemi; J Koivunen
Journal:  Sci Rep       Date:  2022-04-07       Impact factor: 4.379

2.  Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

Authors:  Mohamed Islam Kediha; Meriem Tazir; Damien Sternberg; Bruno Eymard; Lamia Alipacha
Journal:  J Med Case Rep       Date:  2022-03-26
  2 in total

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