Core Programs

Publications

Limb-Girdle Muscular Dystrophy

Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance JM, Pericak-Vance MA, Speer MC, Rosa AL. Myotilin mutation found in second LGMD1A pedigree. Am J of Hum Genetics 71:1428-1432, 2002.

Hauser MA, Horrigan SK, Salmikangas P, Viles KD, Tim RW, Torian UM, Taivainen U, Bartoloni L, Dancel R, Gilchrist JM, Stajich JM, Gaskell, PC, Gilbert JR, Vance, JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.  Myotilin is mutated in limb girdle muscular dystrophy 1A. Human Molecular Genetics, 9:2141-2147, 2000.

Speer MC, Vance JM, Grubber JM, Lennon-Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet 64(2):556-562, 1999.

Falk CT, Gilchrist JM, Pericak-Vance MA, Speer MC. Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet 62:941-949, 1998.

McNally EM, Passos-Bueno MR, BÆnnemann CG, Vainzof M, de Sa Moreira E, Lidov HGW, Ben Othmane K, Denton PH, Vance JM, Zatz M, Kunkel LM. Mild and severe muscular dystrophy caused by a single g-Sarcoglycan mutation. Am J Hum Genet 59:1040-1047, 1996.

Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R, Vance JM, Yamaoka LH, Roses AD, Pericak-Vance MA. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet. 57:1371-1376, 1995.

Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, MizunoYoshida M, Yamamoto H, B nnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the Dystrophin-associated protein -Sarcoglycan in chromosome 13 muscular dystrophy. Science 270: 819-821, 1995.

Ben Othmane K, Speer MC, Stauffer J, Blel S, Middleton L, Ben Hamida C, Etribi A, Loeb D, Hentati F, Roses AD, Ben Hamida M, Pericak-Vance MA, Vance JM. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Am J Hum Genet 57:732-734, 1995.

Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1 locus between D5S178 and IL9. J Neuromusc Disord 4:471-475, 1994.

Speer MC, Yamaoka LH, Gilchrist JM, Gaskell PC, Stajich JM, Vance JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS, Weber JL, Roses AD, Pericak-Vance MA. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 50:1211-1217, 1992.

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