Centronuclear Myopathy
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Centronuclear Myopathy
OMIA
1374
Gene Name
PTPLA
Gene Name 2
HACD1
Mutation
c.191_192ins236b
Test Type
Genetic Disease/Disorder
Details
Centronuclear myopathy (CNM) is a hereditary myopathy. This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months. The carrier and affected population world-wide for the labrador retriever breed is considered to be moderately high (10-16% estimates) meaning that it is recommended that owners and breeders test carefully, and include some carriers + clear tested dogs in their breeding plans to maintain genetic diversity and a balance of other desireable traits.
Details 2
Centronuclear myopathy (CNM) is a hereditary myopathy resulting from a mutation in the protein tyrosine phosphatase-like member A gene (PTPLA). This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months.
Published
Pele, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14:1417-27, 2005. Pubmed reference: 15829503. Doi: 10.1093/hmg/ddi151.
Published 2
Maurer, M., Mary, J., Guillaud, L., Fender, M., Pele, M., Bilzer, T., Olby, N., Penderis, J., Shelton, G.D., Panthier, J.J., Thibaud, J.L., Barthelemy, I., Aubin-Houzelstein, G., Blot, S., Hitte, C., Tiret, L.: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 7:e46408, 2012. Pubmed reference: 23071563. Doi: 10.1371/journal.pone.0046408.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Labrador Retriever
