Symbol
Name
ID

Slc25a4
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
MGI:1353495

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Macroglossia

Achilles tendon contracture

Lower limb muscle weakness

Limb-girdle muscle weakness

Spasticity

Hypotonia

Generalized hypotonia

EMG: myopathic abnormalities

Difficulty walking

Easy fatigability

Cytochrome C oxidase-negative muscle fibers

Depletion of mitochondrial DNA in muscle tissue

Multiple mitochondrial DNA deletions

Mitochondrial myopathy

Subsarcolemmal accumulations of abnormally shaped mitochondria

Muscle spasm

Muscle weakness

Generalized muscle weakness

Proximal muscle weakness

Gowers sign

Respiratory insufficiency due to muscle weakness

Ragged-red muscle fibers

Skeletal muscle atrophy

Rhabdomyolysis

Disease(s) Associated with SLC25A4

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

mitochondrial DNA depletion syndrome 12a

mitochondrial DNA depletion syndrome 12b

mitochondrial myopathy

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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