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GTR Home > Conditions/Phenotypes > Myopathy, congenital, progressive, with scoliosis

Myopathy, congenital, progressive, with scoliosis

Synonyms
CONGENITAL MYOPATHY 19

Summary

Congenital myopathy-19 (CMYO19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYO19, CMYP19, HUP1, MYOSCO, PAX7B, RMS2, PAX7
    Summary: paired box 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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