Article
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
European journal of human genetics : EJHG - 1 Jun 2015
O'Grady Gina L, Best Heather A, Oates Emily C, Kaur Simranpreet, Charlton Amanda, Brammah Susan, Punetha Jaya, Kesari Akanchha, North Kathryn N, Ilkovski Biljana, Hoffman Eric P, Clarke Nigel F
Abstract excerpt
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...
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