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Name: Federico
City: Foggia
State: Italy
Country:
Year of Birth: 2001
Onset: 6
Diagnosis: 6 1/2
Deletion: 3-10
Frame: In-Frame
Cardiac Problems?: N
Ambulatory Problems?: N
Respiratory Problems?: N
Entry Date: July, 2009
Hi I am the father of Fede, excuse my English, the diagnosis was Duchenne dystrophy. Now Fede is 8 1/2 years old. Has no particular problems, take Deflazacort, has big calves, Grower partial and stairs with difficulty. Deletion is in-frame but the doctors 2 years ago they said Duchenne, never done a biopsy and CPK 7000-14000.
Deletion 3-10 is a rare, in any database on the internet I found.
It has no cognitive problems is cheerful, happy, but now you see the difference between him and his friends the same age.
Has never been in a bike and gets up from the earth as when 2, 3, 4, 5, 6, 7 years old.
What do you say? Is there someone with a deletion in N-terminal as Fede?
Greeting all |
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