.tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="a0b88c1a58e4bf9c5b38f6a068e39cfd"] { padding: 0px;margin: 0px 0px 20px 0px; } .tb-field[data-toolset-blocks-field="889d35a53d9e1d33ecca90c43611c505"] { font-size: 16px;line-height: 1.1em;color: rgba( 255, 255, 255, 1 );padding: 0px;margin: 0px; }  .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 3) { grid-column: 3 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.3333fr) minmax(0, 0.3333fr) minmax(0, 0.3333fr);grid-column-gap: 10px;grid-row-gap: 10px;grid-auto-flow: row } .tb-field[data-toolset-blocks-field="696770eb8ca6d8a945549eaaff06add3"] { font-size: 15px;line-height: 1.3em;padding-top: 0px;padding-bottom: 0px;margin-top: 0px;margin-bottom: 0px; }  h4.tb-heading[data-toolset-blocks-heading="93653a5ac9f84902cbd8aa96dea90046"]  { font-size: 16px;line-height: 1.1em;color: rgba( 255, 255, 255, 1 );padding: 0px;margin: 0px; }  h4.tb-heading[data-toolset-blocks-heading="93653a5ac9f84902cbd8aa96dea90046"] a  { color: rgba( 255, 255, 255, 1 ); }  .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { border-radius: 16px 16px 0 0;background: rgba( 27, 95, 193, 1 );padding: 20px 10px 5px 10px;margin-top: 0px;margin-bottom: 0px;box-shadow: 0 10px 100px 0 rgba( 27, 95, 193, 0.16 ); } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );text-align: center;padding: 0px;margin: 10px 0px 10px 0px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );padding-top: 0px;padding-right: 0px;padding-bottom: 0px;margin: 10px 0px 10px 0px; }  @media only screen and (max-width: 781px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.5fr) minmax(0, 0.5fr);grid-column-gap: 15px;grid-row-gap: 15px;grid-auto-flow: row }    .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { background: rgba( 27, 95, 193, 1 );padding: 10px;margin-top: 0px; } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 23px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 23px; }   } @media only screen and (max-width: 599px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"]  > .tb-grid-column:nth-of-type(1n+1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 1fr);grid-auto-flow: row }    .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { padding: 10px 15px 10px 15px;margin-top: 0px; }    } 
LnRiLWhlYWRpbmcuaGFzLWJhY2tncm91bmR7cGFkZGluZzowfQ==
LnRiLWZpZWxke21hcmdpbi1ib3R0b206MC43NmVtfS50Yi1maWVsZC0tbGVmdHt0ZXh0LWFsaWduOmxlZnR9LnRiLWZpZWxkLS1jZW50ZXJ7dGV4dC1hbGlnbjpjZW50ZXJ9LnRiLWZpZWxkLS1yaWdodHt0ZXh0LWFsaWduOnJpZ2h0fS50Yi1maWVsZF9fc2t5cGVfcHJldmlld3twYWRkaW5nOjEwcHggMjBweDtib3JkZXItcmFkaXVzOjNweDtjb2xvcjojZmZmO2JhY2tncm91bmQ6IzAwYWZlZTtkaXNwbGF5OmlubGluZS1ibG9ja311bC5nbGlkZV9fc2xpZGVze21hcmdpbjowfQ==
1.9
Disorders of mitochondrial DNA maintenance and replication
This category comprises diseases affecting both proteins needed for mitochondrial nucleotide pool maintenance and proteins which are instead essential for mtDNA replication and maintenance. In the case of mitochondrial deoxyguanosine kinase deficiency, an unbalanced pool of dNTPs for the reduction of deoxypurines leads to mtDNA single or multiple deletions. Mitochondrial thymidine kinase deficiency might lead to similar outcomes, causing myopathic weakness and severe depletion of muscle mitochondrial DNA which have different prevalence depending on the age of onset. Other diseases, such as SAMHD1 deficiency, can instead involve the nervous system or cause hepatosplenomegaly and hematological disturbances.
Mitochondrial deoxyguanosine kinase deficiency (Mitochondrial DNA depletion syndrome type 3;…
Mitochondrial DNA polymerase gamma catalytic subunit deficiency (Mitochondrial DNA depletion…
