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Centronuclear Myopathy (Labrador Retriever Type)

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Test Overview:

Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. This causes insuficient muscle function in Labrador Retrievers. At first, puppy will seem normal, but with puppy’s aging, Labrador Retriever Centronuclear myopathy symptoms starts to show. Within 2 to 5 months clinical features in pups will include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold. On examination, there is evidence of skeletal muscle atrophy, particularly involving muscles of the head and tendinous areflexia. Histopathological evaluation of muscle biopsies demonstrates a characteristic centralization of myonuclei, often located in areas devoid of myofibrils with mitochondrial aggregation. No cure for centronuclear myopathy has been developed and affected dog will never develope properly functioning muscle tissue. Dog can live normally, but limited and affected by symptoms of centronuclear myopathy.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

PTPLA

Variant Detected:

chr2:19371988-19371989 (canFam3): 236 bp insertion; chr2:19371976-19371988 (canFam3): 13 bp duplication (dup CACACAAAGGTTT)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gentilini F, Zambon E, Gandini G, Rosati M, Spadari A, Romagnoli N, Turba ME, Gernone F.Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy. J Vet Diagn Invest. 2011 Jan; 23(1):124-6. [PubMed: 21217042] Maurer M, Mary J, Guillaud L, Fender M, Pele M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, 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. 2012;7(10):e46408. doi:10.1371/journal.pone.0046408. [PubMed: 23071563] Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ. 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. 2005 Jun 1; 14(11):1417-27. [PubMed: 15829503]

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Goldendoodle, Labradoodle , Labrador Retriever, Mixed Breed,

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