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Human Disease

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
Ontology
Human Disease   ( DOID:0081351 )
Relationships
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Genes Involved
Zebrafish Models