ジストロフィンの欠損は一部のミオパチーの原因となり、総称して筋ジストロフィーと呼ばれる。1986年に、ある遺伝子の変異がデュシェンヌ型筋ジストロフィー (DMD) を引き起こすことが明らかになり[9]、1987年にLouis M. Kunkelによって、その産物であるこの細胞質タンパク質が同定された[10]。
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^Hoffman E, Brown R, Kunkel L (1987). “Dystrophin: the protein product of the Duchenne muscular dystrophy locus”. Cell51 (6): 919–28. doi:10.1016/0092-8674(87)90579-4. PMID3319190.
^Aartsma-Rus A, et al. (2006). “Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule”. Muscle Nerve34 (2): 135–44. doi:10.1002/mus.20586. PMID16770791.
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^Ahn, A H; Freener C A, Gussoni E, Yoshida M, Ozawa E, Kunkel L M (Feb. 1996). “The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives”. J. Biol. Chem. (UNITED STATES) 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. ISSN0021-9258. PMID8576247.
^Yang, B; Jung D, Rafael J A, Chamberlain J S, Campbell K P (Mar. 1995). “Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, nNOS NOS1 ,and utrophin”. J. Biol. Chem. (UNITED STATES) 270 (10): 4975–8. doi:10.1074/jbc.270.10.4975. ISSN0021-9258. PMID7890602.
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Muntoni F, Torelli S, Ferlini A (2003). “Dystrophin and mutations: one gene, several proteins, multiple phenotypes”. Lancet neurology2 (12): 731–40. doi:10.1016/S1474-4422(03)00585-4. PMID14636778.
Haenggi T, Fritschy JM (2006). “Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue”. Cell. Mol. Life Sci.63 (14): 1614–31. doi:10.1007/s00018-005-5461-0. PMID16710609.