congenital myopathy 19

Term ID

DOID:0081351

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. https://pubmed.ncbi.nlm.nih.gov/31092906/

References

• OMIM:618578

Ontology

Human Disease   ( DOID:0081351 )