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doi.org/10.1016/S0960-8966(99)00040-1, hdl.handle.net/1765/73647
Neuromuscular Disorders
Department of Clinical Genetics

Bruno, C., DiRocco, M., Doria Lamba, L., Bado, M., Marino, C., Tsujino, S., … Dimauro, S. (1999). A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscular Disorders, 9(6-7), 403–407. doi:10.1016/S0960-8966(99)00040-1