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Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.
Stajich JM, Gilchrist JM, Lennon F, Lee A, Yamaoka L, Rosi B, Gaskell PC, Pritchard M, Donald L, Roses AD, Vance JM, Pericak-Vance MA. Stajich JM, et al. Among authors: gilchrist jm. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S75-81. doi: 10.1016/s0960-8966(97)00087-4. Neuromuscul Disord. 1997. PMID: 9392021
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
Speer MC, Gilchrist JM, Stajich JM, Gaskell PC, Westbrook CA, Horrigan SK, Bartoloni L, Yamaoka LH, Scott WK, Pericak-Vance MA. Speer MC, et al. Among authors: gilchrist jm. J Med Genet. 1998 Apr;35(4):305-8. doi: 10.1136/jmg.35.4.305. J Med Genet. 1998. PMID: 9598725 Free PMC article.
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Among authors: gilchrist jm. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653
129 results