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A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

Neuromuscular disorders : NMD - 1 Aug 2023

da Silva Rocha Emanuelle Bianchi, de Lima Rodrigues Ketteny, Montouro Laura Alonso Matheus, Coelho Érica Nogueira, Kouyoumdjian João Aris, Kok Fernando, Nóbrega Paulo Ribeiro, Graca Carla Renata, Morita Maria da Penha Ananias, Estephan Eduardo de Paula

Abstract excerpt

Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year-old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37429773
DOI: 10.1016/j.nmd.2023.06.004

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