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Your search keyword '"Graham, Felicia Lennon"' showing total 3 results
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3 results on '"Graham, Felicia Lennon"'

1. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (Report)

Author

Reid, Evan, Kloos, Mark, Ashley-Koch, Allison, Hughes, Lori, Bevan, Simon, Svenson, Ingrid K., Graham, Felicia Lennon, Gaskell, Perry C., Dearlove, Andrew, Pericak-Vance, Margaret A., Rubinsztein, David C., and Marchuk, Douglas A.

Subjects
Gene mutations -- Physiological aspects, Genetic disorders -- Physiological aspects, Kinesin -- Physiological aspects, Neurons -- Physiological aspects, Paralysis, Spastic -- Genetic aspects, Biological sciences
Published
2002

2. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

Author

Speer, Marcy C., Vance, Jeffery M., Grubber, Janet M., Graham, Felicia Lennon, Stajich, Jeffrey M., Viles, Kristi D., Rogala, Allison, McMichael, Robert, Chutkow, Jerry, Goldsmith, Claire, Time, Richard W., and Pericak-Vance, Margaret A.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Muscular dystrophy -- Genetic aspects, Creatine kinase -- Physiological aspects, Speech disorders -- Genetic aspects, Biological sciences
Abstract

A new autosomal dominant limb-girdle muscular dystrophy (LBMD1) locus has been identified on chromosome 7. Of five studied families, two show evidence that points to linkage to the region, further heterogeneity is established in the diagnostic classification. Flanking markers show the locus for the disease to be between D7S2423 and D7S427. Multipoint analysis slightly favors the D7S2546-D7S2423 interval of 9 cM.

Published
1999

3. Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

Author

Speer MC, Graham FL, Bonner E, Collier K, Stajich JM, Gaskell PC, Pericak-Vance MA, and Vance JM

Subjects
Female, Genes, Dominant, Genetic Heterogeneity, Humans, Lod Score, Male, Pedigree, Charcot-Marie-Tooth Disease genetics, Genetic Markers
Abstract

As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth disease type 2 (CMT2) families, we identified 11 regions in the genome with lod scores > or = 1.0. One of these regions was near the recently identified CMTDI1 locus on 19q. We show evidence of linkage of DUK 1118 to this region and our data reduce the minimum candidate interval for CMTDI1 to the 9-cM interval spanned by D19S586 and D19S432. We also demonstrate that five additional CMT2 families are unlinked to 19q markers, providing further evidence of CMT2 heterogeneity.

Published
2002
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