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congenital myopathy due to ITGA7 defect

Genetics: - associated with defects in ITGA7 (integrin alpha-7) Clinical manifestations: - abnormal muscle development - muscle weakness is either non-progressive or slowly progressive & apparent from birth or early infancy

General

genetic disease of muscle (inherited myopathy) congenital anomaly (birth defect)

References

  1. UniProt :accession Q13683