X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene - Watanabe, T; Watanabe, M; Saito, T; Higashitani, A; Tanaka, S; Nishino, I; Nonaka, I (No to hattatsu, 1998)
Keywords: Child, Preschool; Genetic Linkage; Humans; Male; Muscular Diseases - genetics; Mutation; Protein Tyrosine Phosphatases - genetics; Protein Tyrosine Phosphatases, Non-Receptor; X Chromosome