A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

C Bruno, M di Rocco, L Doria Lamba, M Bado, C Marino, S Tsujino, S Shanske, G Stella, C Minetti, Otto Diggelen, S di Mauro

Research output: Contribution to journalArticleAcademicpeer-review

26 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)403-407
Number of pages5
JournalNeuromuscular Disorders
Volume9
DOIs
Publication statusPublished - 1999

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