MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort, S
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. [electronic resource] - Acta neuropathologica 12 2019 - 1013-1031 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1432-0533
10.1007/s00401-019-02059-z doi
Adolescent
Adult
Atrophy
Cell Cycle Proteins--genetics
Cells, Cultured
Cerebellar Diseases--diagnostic imaging
Child
Cytoskeletal Proteins--genetics
DNA Copy Number Variations
DNA, Mitochondrial
Female
Fibroblasts--metabolism
Humans
Male
Middle Aged
Mitochondrial Diseases--diagnostic imaging
Muscles--pathology
Muscular Dystrophies--diagnostic imaging
Mutation
Phenotype
Young Adult
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. [electronic resource] - Acta neuropathologica 12 2019 - 1013-1031 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1432-0533
10.1007/s00401-019-02059-z doi
Adolescent
Adult
Atrophy
Cell Cycle Proteins--genetics
Cells, Cultured
Cerebellar Diseases--diagnostic imaging
Child
Cytoskeletal Proteins--genetics
DNA Copy Number Variations
DNA, Mitochondrial
Female
Fibroblasts--metabolism
Humans
Male
Middle Aged
Mitochondrial Diseases--diagnostic imaging
Muscles--pathology
Muscular Dystrophies--diagnostic imaging
Mutation
Phenotype
Young Adult