Term Name:	congenital myopathy 19
Synonyms:
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.
Ontology:	Human Disease [DOID:0081351]   ( DOID:0081351 )