Population
Patients with congenital myopathies
Design
Review
Authors
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May aid genetic diagnosis of congenital myopathies; leaves open prospective genotype-phenotype validation in clinical cohorts.
The review highlights the transition in understanding congenital myopathies from purely morphological classifications to incorporating specific molecular genetic defects.
Bornemann et al. (2001) studied this question.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: