OMIM@xiajingbo:102610-1-ACTA1
In 2 infant sibs with severe autosomal recessive nemaline myopathy-3 (NEM3; 161800) leading to death at 5 and 19 days of age, Nowak et al. (1999) identified compound heterozygosity for 2 mutations in the ACTA1 gene: a T-to-C transition in exon 3, resulting in a leu94-to-pro (L94P) substitution inherited from the unaffected father, and an A-to-G transition in exon 5, resulting in a glu259-to-val (E259V; 102610.0005) substitution inherited from the unaffected mother.
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