Categories: Muscle phene

Mendelian trait/disorder: unknown

Mode of inheritance: Mitochondrial

Disease-related: yes

Molecular basis: Shelton et al. (2024) "describe an adult standard poodle with chronic weakness and exercise intolerance, diagnose a mitochondrial myopathy ... , and identify multiple deletions in its mtDNA via whole-genome sequencing (WGS) of DNA extracted from muscle biopsies. Insertion of a DYNLT1 retrogene into the nuclear genome [at position chr8:54,073,620 of the CanFam4/UU_Cfam_GSD_1.0 reference genome] and downstream alteration of expression of the mitochondrial voltage-dependent anion channel (VDAC), is suspected of being the underlying cause."

Breeds: Jack Russell Terrier (Dog) (VBO_0200724), Old English Sheepdog (Dog) (VBO_0200969), Poodle, Standard (Dog) (VBO_0201056).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).