Population
Patients with ACTA1 mutations causing congenital myopathies
Design
Review
Authors
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Expands molecular diagnostic options for severe congenital myopathies; leaves open genotype-phenotype correlations and prospective validation.
The article catalogs 177 disease-causing ACTA1 mutations associated with severe congenital myopathies and introduces a locus-specific database to aid molecular diagnosis.
Laing et al. (2009) studied this question.
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