congenital myopathy 19 (DOID:0081351)
Alliance: disease page
Alt IDs: OMIM:618578
Definition: A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.