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

Muscle Nerve. 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.

Publication types

Case Reports

MeSH terms

Blepharoptosis / etiology
Collagen Type XIII / genetics*
Deglutition Disorders / etiology
Dyspnea / etiology
Humans
Male
Middle Aged
Muscle Weakness / etiology
Mutation
Myasthenic Syndromes, Congenital / complications
Myasthenic Syndromes, Congenital / diagnosis
Myasthenic Syndromes, Congenital / genetics*
Myasthenic Syndromes, Congenital / physiopathology
Neural Conduction
Respiratory Insufficiency / etiology

Substances

COL13A1 protein, human
Collagen Type XIII