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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 Marquardt  1 , Yuebing Li  1
Affiliations
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.
No abstract available

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

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