mitochondrial DNA depletion syndrome 12b

Term ID

DOID:0080335

Synonyms

Definition

A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (4)

References

• GARD:1142
• NCI:C129977
• OMIM:615418
• ORDO:1369

Ontology

Human Disease   ( DOID:0080335 )