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UnknownReversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Not available
S-EPMC4562368 | biostudies-literature
UnknownDepletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Not available
S-EPMC2486441 | biostudies-literature
UnknownNucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Not available
S-EPMC11043827 | biostudies-literature
UnknownRare NaV1.7 variants associated with painful diabetic peripheral neuropathy.
Not available
S-EPMC5828379 | biostudies-literature
UnknownClinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial disease.
Not available
S-EPMC5413961 | biostudies-literature
UnknownPitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Not available
S-EPMC7387837 | biostudies-literature
UnknownEMQN best practice guidelines for genetic testing in dystrophinopathies.
Not available
S-EPMC7608854 | biostudies-literature
UnknownDigenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Not available
S-EPMC11146415 | biostudies-literature
UnknownThe clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Not available
S-EPMC2875130 | biostudies-literature
UnknownThe Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.
Not available
S-EPMC7501587 | biostudies-literature
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