DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Cerebral seizure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1540600
Disease: Cerebral seizure
Cerebral seizure 		0.010 AlteredExpression disease BEFREE The child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. 12100373 2002