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You Are Treating an 8-Month-Old Female Infant Brought in by Her

Question 2

Multiple Choice

You are treating an 8-month-old female infant brought in by her parents because of seizures. Physical examination indicates microcephaly, microphthalmia with retinal detachment. and severe mental retardation. You suspect these symptoms are associated with a specific gene defect and order a test for the presence of mutations in α-dystroglycan. Test results are positive. A defect in which of the following, related to α-dystroglycan processing, is most likely in this patient?


A) N-glycosylation
B) O-GlcNAcylation
C) O-glycosylation mucin type
D) O-mannosylation

Correct Answer:

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