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Mutations in the integrin alpha7 gene cause congenital myopathy.
Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K. Hayashi YK, et al. Among authors: tsukahara t. Nat Genet. 1998 May;19(1):94-7. doi: 10.1038/ng0598-94. Nat Genet. 1998. PMID: 9590299
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.
Arikawa-Hirasawa E, Koga R, Tsukahara T, Nonaka I, Mitsudome A, Goto K, Beggs AH, Arahata K. Arikawa-Hirasawa E, et al. Among authors: tsukahara t. Neuromuscul Disord. 1995 Sep;5(5):429-38. doi: 10.1016/0960-8966(94)00087-p. Neuromuscul Disord. 1995. PMID: 7496177
875 results