in recent years , the following ideas have been expressed : ( a ) that all cases of a discrete , inherited neuromuscular syndrome should prove to be due to a single biochemical defect , ( b ) that any single biochemical defect should give rise only to one syndrome , and ( c ) that an enzymatic defect can not give rise to a disease unless there is virtual absence of activity , that is , less than 5 % or 10 % of the normal value .
C0039082
syndrome
C0012634
disease