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Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

2024-10-11

Abstract excerpt

Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which is clinically and genetically heterogeneous. Genome sequencing identified biallelic MRPL49 variants in individuals from five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, mi...

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Literature Corpus work
f537eac8-c422-5423-b1b7-ea897b966b8f
DOI
10.1101/2024.10.10.24315152
Open publication

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Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyDOI 10.1101/2024.10.10.24315152
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