Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-06

AUTHORS

Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman, Nigel F Clarke

ABSTRACT

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression. More... »

PAGES

883

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2014.169

DOI

http://dx.doi.org/10.1038/ejhg.2014.169

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006206191

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25182138


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