Rhabdomyolysis and Metabolic Myopathy
Gene: DGUOK
Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion.
The three associations likely represent a continuum of severity for a mitochondrial disorder.Created: 7 May 2022, 8:30 a.m. | Last Modified: 7 May 2022, 8:30 a.m.
Panel Version: 0.13916
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Publications
Single case reported with rhabdomyolysis
Sources: LiteratureCreated: 29 May 2020, 3:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolisis; lower limb weakness
Publications
Gene: dguok has been classified as Green List (High Evidence).
Phenotypes for gene: DGUOK were changed from Rhabdomyolisis; lower limb weakness to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Publications for gene: DGUOK were set to 23043144
Gene: dguok has been classified as Red List (Low Evidence).
gene: DGUOK was added gene: DGUOK was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 23043144 Phenotypes for gene: DGUOK were set to Rhabdomyolisis; lower limb weakness Review for gene: DGUOK was set to RED