ArticlePloS one2012
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Occult tethered cord syndrome: insights into clinical and MRI features, prognostic factors, and treatment outcomes in 30 dogs with confirmed or presumptive diagnosis.Frontiers in veterinary science · 2025Article
- Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.BMC veterinary research · 2024Review
- X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.Journal of veterinary internal medicine · 2022Article
- Article
- Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates.Journal of veterinary internal medicine · 2021Article
- Disorder predispositions and protections of Labrador Retrievers in the UK.Scientific reports · 2021Article
- Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.Neuromuscular disorders : NMD · 2020Article
- Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.Nature reviews. Neurology · 2018Review
- Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy.Journal of veterinary internal medicine · 2016Article
- HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.Journal of molecular cell biology · 2015Article
- X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.Skeletal muscle · 2015Article
- Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.Journal of veterinary internal medicine · 2015Article
- Selecting Quality Service Dogs: Part 1: Morphological and Health Considerations.The APDT chronicle of the dog · 2015Article
- Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.PLoS genetics · 2013Article
- Myopathy with oval inclusions in a domestic shorthair cat.JFMS open reportsArticle
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families. Analysis of animal models with altered expression of these genes revealed common defects in all forms of CNM, paving the way for unified pathogenic and therapeutic mechanisms. Despite these efforts, some CNM cases remain genetically unresolved. We previously identified an autosomal recessive form of CNM in French Labrador retrievers from an experimental pedigree, and showed that a loss-of-function mutation in the protein tyrosine phosphatase-like A (PTPLA) gene segregated with CNM. Around the world, client-owned Labrador retrievers with a similar clinical presentation and histopathological changes in muscle biopsies have been described. We hypothesized that these Labradors share the same PTPLA(cnm) mutation. Genotyping of an international panel of 7,426 Labradors led to the identification of PTPLA(cnm) carriers in 13 countries. Haplotype analysis demonstrated that the PTPLA(cnm) allele resulted from a single and recent mutational event that may have rapidly disseminated through the extensive use of popular sires. PTPLA-deficient Labradors will help define the integrated role of PTPLA in the existing CNM gene network. They will be valuable complementary large animal models to test innovative therapies in CNM.
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