Labrador Centronuclear Myopathy (CNM)
Hereditary Myopathy of the Labrador Retriever, Type II Muscle Fiber Deficiency
Labrador Centronuclear Myopathy (CNM) is an inherited muscular disease that was previously known as Labrador Muscular Myopathy. The disease is characterized by early-onset muscular problems such as awkward gait, fatigue, and difficulty eating. Affected puppies will often have difficulty gaining weight due to decreased muscle tone in the esophagus. Symptoms will persist and often become worse over time and are exacerbated in cold conditions. Unfortunately, there is no treatment for this disease as affected dogs don’t develop properly functioning muscle tissue. Affected dogs can have a normal life span with a reduced quality of life.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Labrador Centronuclear Myopathy nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Labrador Centronuclear Myopathy but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Labrador Centronuclear Myopathy and are susceptible to developing insufficient muscle function.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PTPLA (Aka HACD1)
Chromosome
Ch. 2
Mutation
C.203_204ins (236 Bp SINE Insertion With 13 Bp Insertion Site Duplication)
Publication:
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]
