A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype
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1
Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Autores
ROCHA, Emanuelle Bianchi da Silva
RODRIGUES, Ketteny de Lima
MONTOURO, Laura Alonso Matheus
COELHO, erica Nogueira
KOUYOUMDJIAN, Joao Aris
NOBREGA, Paulo Ribeiro
GRACA, Carla Renata
MORITA, Maria da Penha Ananias
Citação
NEUROMUSCULAR DISORDERS, v.33, n.8, p.692-696, 2023
Resumo
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 weakness of arm abduction and neck flexion. Investigation evidenced mild serum creatine kinase increase and glucose intolerance; second-degree atrioventricular block; mild mixed type respiratory disorder and atrophy and granular appearance of the retinal pigment epithelium. Brain magnetic resonance showed cerebellar atrophy. Muscle biopsy was compatible with mitochondrial myopathy. Genetic panel revealed a homozygous pathogenic variant in the MGME1 gene, consistent with MTDPS11 (c.862C > T; p.Gln288 *). This case of MTDPS11 can contribute to the phenotypic characterization of this ultra-rare mitochondrial disorder, presenting milder respiratory and nutritional involvement than the previously reported cases, with possible additional features.(c) 2023 Elsevier B.V. All rights reserved.
Palavras-chave
Mitochondrial diseases, Chronic progressive external ophthalmoplegia, mtDNA depletion syndrome, MGME1
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