Rhabdomyolysis and Metabolic Myopathy
Gene: MGME1
Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. Three unrelated families, mouse model.Created: 18 May 2022, 7:18 a.m. | Last Modified: 18 May 2022, 7:18 a.m.
Panel Version: 0.810
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 11, MIM# 615084
Publications
Gene: mgme1 has been classified as Green List (High Evidence).
Gene: mgme1 has been classified as Green List (High Evidence).
gene: MGME1 was added gene: MGME1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGME1 were set to 23313956; 29572490; 28711739 Phenotypes for gene: MGME1 were set to mitochondrial DNA depletion syndrome 11 MONDO:0014039