Mutations | No of subjects | Sporadic cases | Autosomal recessive cases | Familial cases |
---|---|---|---|---|
35delG/35delG | 16 | 8 | 3 | 5 |
35delG/139 GT | 3 | 2 | 1 | |
35delG/269 TC | 1 | 1 | ||
358-360delGAG/167delT | 1 | 1 | ||
35delG/ negative | 4 | 3 | 1 | |
269 TC/ negative | 1 | 1 | ||
551GC/ negative | 1 | 1 | ||
31del14/ negative | 1 | 1 | ||
Total | 28 | 15 | 6 | 7 |