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

Neuromuscul Disord

Department of Neurological Sciences, Psychiatry and Medical Psychology, Fundação Faculdade Regional de Medicina São José do Rio Preto (FUNFARME), Brigadeiro Faria Lima Avenue, 5416, 15090-000 São José do Rio Preto, São Paulo, Brazil; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Ovídio Pires de Campos Street, 225, 05403-010 São Paulo, Brazil; Hospital Santa Marcelina, Department of Neurology, São Paulo, Brazil; Faculdade de Medicina Santa Marcelina (FASM), Department of Medical Clinic, São Paulo, Brazil. Electronic address:

Published: August 2023

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2023.06.004DOI Listing

Publication Analysis

Top Keywords

mitochondrial dna
8
dna depletion
8
depletion syndrome
8
syndrome type
8
mgme1 gene
8
case mitochondrial
4
type expanding
4
expanding genotype
4
genotype phenotype
4
phenotype mitochondrial
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!