4 results on '"Vasconcelos O"'
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2. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
3. Late-onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation
4. Mutations in American families with spinocerebellar ataxia (SCA) type 3
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