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Lookup NU author(s): Dr Sabine Specht, Dr Jennifer Duff, Dr Richard Charlton, Dr Tuomo Polvikoski, Dr Rita Barresi, Dr Ana TopfORCiD, Professor Volker StraubORCiD
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© 2021 Elsevier B.V.Recessive mutations in the LAMA2 gene lead to congenital muscular dystrophy type 1A and limb girdle muscular dystrophy R23 with complete or partial laminin α2 chain deficiency. Complete laminin α2 chain deficiency presents with early onset of severe hypotonia and generalized weakness, whereas partial deficiency shows a milder and more variable course with limb girdle weakness. Here, we report a child with mildly delayed motor development, elevated serum creatine kinase levels (>1000 U/l) and brain white matter hypointensity, indicative of laminin α2 chain deficiency. In addition to a stop gain variant in exon 39, the patient was found to carry an intronic insertion of 72 bp in intron 38 of the LAMA2 gene in trans. RNA analysis revealed that this insertion results in abnormally spliced as well as wild type transcript, which explains the partial laminin α2 chain deficiency observed in the muscle biopsy.
Author(s): Specht S, Duff J, Charlton R, Polvikoski T, Barresi R, Topf A, Straub V
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2021
Volume: 31
Issue: 7
Pages: 660-665
Print publication date: 01/07/2021
Online publication date: 31/03/2021
Acceptance date: 24/03/2021
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2021.03.009
DOI: 10.1016/j.nmd.2021.03.009
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