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Centronuclear Myopathy /Inherited Myopathy (Great Dane Type) Overview

Centronuclear Myopathy /Inherited Myopathy (Great Dane Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Bridging integrator 1 (BIN1) on chromosome 19

Variant Detected: IVS10-2 A>G at the exon 11 acceptor splice site of BIN1

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Inherited myopathy in the Great Dane is an autosomal recessive trait characterized by generalized muscle atrophy, exercise intolerance, exercise-induced tremor and muscle wasting. Symptoms of the disease typically appear before 10 months of age and rapidly progress within the next 6-8 months of life before most animals succumb to severe debilitating muscle weakness.

Research Citation(s): Bohm et al. PLOS Genet, Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy (2013) 9;6, e1003430

Associated Breed(s): Great Dane,  Mixed Breed,