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Centronuclear Myopathy

Breed: Australian Cobberdog

Generic Phene Data

General

Disease Name
Centronuclear Myopathy
Disease Name 2
CNM
OMIA
1374
Gene Name
PTPLA
Mutation
c.191_192ins236b
OMIM
610467
Disease Code
CNM
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Labrador myopathy, HMLR
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
Inheritance
AR
Gene Name Text
protein tyrosine phosphatase-like gene

Breed Specific Data

DNA My Dog

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, 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 myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, 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 myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR

Paw Print Genetics

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test

GenSol Diagnostics

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b

GenSol Diagnostics

Link to GTP
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
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