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Metadata
ID	DOID:0081342
Name	congenital myopathy 8
Definition	A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. https://pubmed.ncbi.nlm.nih.gov/30701273/
Xrefs	MIM:618654
Parent Relationships	is_a congenital myopathy is_a autosomal dominant disease