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G.P.12.04 A missense variant in the MTM1 gene associated with X-linked myotubular myopathy in Labrador retrievers

✍ Scribed by G.D. Shelton; J. Bohm; E. Snead; M. Kozlowski; K. Minor; L. Tiret; M.K. Childers; S.M. Taylor; J.R. Mickelson; L.T. Guo; A.P. Mizisin; J. Laporte; A.H. Beggs


Book ID
116794193
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
42 KB
Volume
19
Category
Article
ISSN
0960-8966

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The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a