Term Name: | spinal muscular atrophy, Jokela type |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081356] ( DOID:0081356 ) |