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Metadata
ID	DOID:0081356
Name	spinal muscular atrophy, Jokela type
Definition	A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/36158221/, https://www.ncbi.nlm.nih.gov/books/NBK304142/
Xrefs	MIM:615048 ORDO:276435
Subsets	DO_rare_slim
Parent Relationships	is_a spinal muscular atrophy is_a autosomal dominant disease