Figure_2.tif (692.29 kB)
PTPLA mutation in the initial confirmation panel of CNM dogs.
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posted on 2012-10-05, 00:56 authored by Marie Maurer, Jérôme Mary, Laurent Guillaud, Marilyn Fender, Manuel Pelé, Thomas Bilzer, Natasha Olby, Jacques Penderis, G. Diane Shelton, Jean-Jacques Panthier, Jean-Laurent Thibaud, Inès Barthélémy, Geneviève Aubin-Houzelstein, Stéphane Blot, Christophe Hitte, Laurent Tiret(A) Wild-type (wt = 610 bp) and PTPLAcnm (cnm = wt+238 bp) alleles in a healthy carrier (FR-1) and an affected (FR-2) Labrador from the French experimental pedigree. (B) Segregation of the PTPLAcnm allele in a four-generation pedigree of a client-owned US proband female (arrow). (C) Genotypes of client-owned Labradors from several countries, diagnosed with CNM-related myopathies (asterisks; Table S1). US-6 is a champion known to have produced CNM pups; DE-5 is a control affected by a neuropathy and FR-2 was reloaded for size comparison.
