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Lint: chronic-progressive-external-ophthalmoplegia

Emphasis
warning

"Typically, patients have a large deletion in mitochondrial DNA (mtDNA) (e.g. Kearns-Sayre syndrome, Pearson syndrome, MNGIE), but autosomal dominant or recessive forms due to mutations in nuclear genes that affect mitochondrial DNA (mtDNA) repair or replication have also been reported (e.g. POLG-related disorders, TWNK) 1,4. It is sporadic in a majority of cases 4."

Line 9:320 · Italics should be used only in exceptional circumstances: '<em>POLG</em>-related disorders</a>, <em>TWNK</em>'
List Caps
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"Lambert-Eaton myasthenic syndrome"

Line 26:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Commas
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"Typically, patients have a large deletion in mitochondrial DNA (mtDNA) (e.g. Kearns-Sayre syndrome, Pearson syndrome, MNGIE), but autosomal dominant or recessive forms due to mutations in nuclear genes that affect mitochondrial DNA (mtDNA) repair or replication have also been reported (e.g. POLG-related disorders, TWNK) 1,4. It is sporadic in a majority of cases 4."

Line 9:13 · More than 5 commas in a single sentence might make it more difficult to read.
Parentheses
suggestion

"Typically, patients have a large deletion in mitochondrial DNA (mtDNA) (e.g. Kearns-Sayre syndrome, Pearson syndrome, MNGIE), but autosomal dominant or recessive forms due to mutations in nuclear genes that affect mitochondrial DNA (mtDNA) repair or replication have also been reported (e.g. POLG-related disorders, TWNK) 1,4. It is sporadic in a majority of cases 4."

Line 9:67 · Use parentheses judiciously. There are at least 3 sets in this paragraph.