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pontine-autosomal-dominant-microangiopathy-with-leukoencephalopathy-padmal

Colon Spacing

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"The clinical presentation consists of :"

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Emphasis

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"Pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease. It is a distinct entity to COL4A1 brain small-vessel disease, but very likely on the same spectrum of disease as Swedish hereditary multi-infarct dementia."

Line 1:136 · Italics should be used only in exceptional circumstances: 'COL4A1-related disorder</a> that primarily causes <a>cerebral small vessel disease</a>. It is a distinct entity to <a>COL4A1'

"Unlike other COL4A1-related disorders, extra-cranial manifestations are generally not seen ⁴."

Line 10:20 · Italics should be used only in exceptional circumstances: 'COL4A1'

"In PADMAL, this mutation leads to over-expression in COL4A1, which is distinct to mutations causing COL4A1 brain small-vessel disease which are generally missense mutations in different regions of the same gene leading to abnormal alpha-1 chain of type IV collagen synthesis ^2,3,5."

Line 13:57 · Italics should be used only in exceptional circumstances: 'COL4A1'

Prefix Hyphens

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"Unlike other COL4A1-related disorders, extra-cranial manifestations are generally not seen ⁴."

Line 10:59 · A prefix takes a hyphen only to avoid a duplicate letter: 'extra-cranial'.

Acronyms

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"PADMAL is caused by a mutation to the 3' untranslated region (3'UTR) of the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen ^2,3,5. De novo mutations have been described ⁸."

Line 12:68 · 'UTR' has no definition. Spell it out if it's unfamiliar to the audience.

Headings Valid

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