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Myopathies, Structural, Congenital
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Myopathies Structural Congenital