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

Página do item simplificado
dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorROCHA, Emanuelle Bianchi da Silva
dc.contributor.authorRODRIGUES, Ketteny de Lima
dc.contributor.authorMONTOURO, Laura Alonso Matheus
dc.contributor.authorCOELHO, erica Nogueira
dc.contributor.authorKOUYOUMDJIAN, Joao Aris
dc.contributor.authorKOK, Fernando
dc.contributor.authorNOBREGA, Paulo Ribeiro
dc.contributor.authorGRACA, Carla Renata
dc.contributor.authorMORITA, Maria da Penha Ananias
dc.contributor.authorESTEPHAN, Eduardo de Paula
dc.date.accessioned2023-12-15T18:54:04Z
dc.date.available2023-12-15T18:54:04Z
dc.date.issued2023
dc.description.abstractMitochondrial 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.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus
dc.identifier.citationNEUROMUSCULAR DISORDERS, v.33, n.8, p.692-696, 2023
dc.identifier.doi10.1016/j.nmd.2023.06.004
dc.identifier.eissn1873-2364
dc.identifier.issn0960-8966
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/57456
dc.language.isoeng
dc.publisherPERGAMON-ELSEVIER SCIENCE LTDeng
dc.relation.ispartofNeuromuscular Disorders
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright PERGAMON-ELSEVIER SCIENCE LTDeng
dc.subjectMitochondrial diseaseseng
dc.subjectChronic progressive external ophthalmoplegiaeng
dc.subjectmtDNA depletion syndromeeng
dc.subjectMGME1eng
dc.subject.othermutationseng
dc.subject.othersequenceeng
dc.subject.othermgme1eng
dc.subject.wosClinical Neurologyeng
dc.subject.wosNeuroscienceseng
dc.titleA case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotypeeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalROCHA, Emanuelle Bianchi da Silva:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalRODRIGUES, Ketteny de Lima:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalMONTOURO, Laura Alonso Matheus:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalCOELHO, erica Nogueira:Fdn Fac Reg Med Sao Jose Do Rio Preto FUNFARME, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalKOUYOUMDJIAN, Joao Aris:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalNOBREGA, Paulo Ribeiro:Univ Fed Ceara UFC, Dept Neurol, Fac Med, Alexandre Barauna,949, BR-60430160 Fortaleza, CE, Brazil
hcfmusp.author.externalGRACA, Carla Renata:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.author.externalMORITA, Maria da Penha Ananias:Fac Estadual Med Sao Jose Do Rio Preto FAMERP, Dept Neurol Sci Psychiat & Med Psychol, Brigadeiro Faria Lima Ave,5416, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil
hcfmusp.citation.scopus2
hcfmusp.contributor.author-fmusphcFERNANDO KOK
hcfmusp.contributor.author-fmusphcEDUARDO DE PAULA ESTEPHAN
hcfmusp.description.beginpage692
hcfmusp.description.endpage696
hcfmusp.description.issue8
hcfmusp.description.volume33
hcfmusp.origemWOS
hcfmusp.origem.pubmed37429773
hcfmusp.origem.scopus2-s2.0-85164497062
hcfmusp.origem.wosWOS:001094547300001
hcfmusp.publisher.cityOXFORDeng
hcfmusp.publisher.countryENGLANDeng
hcfmusp.relation.referenceAhmed N, 2015, INT J MOL SCI, V16, P18054, DOI 10.3390/ijms160818054eng
hcfmusp.relation.referenceBasel D, 2020, CLIN PERINATOL, V47, P123, DOI 10.1016/j.clp.2019.10.008eng
hcfmusp.relation.referenceDiMauro S, 2004, BBA-BIOENERGETICS, V1658, P80, DOI 10.1016/j.bbabio.2004.03.014eng
hcfmusp.relation.referenceGorman GS, 2016, NAT REV DIS PRIMERS, V2, P1, DOI 10.1038/nrdp.2016.80eng
hcfmusp.relation.referenceHebbar M, 2017, EUR J MED GENET, V60, P533, DOI 10.1016/j.ejmg.2017.07.010eng
hcfmusp.relation.referenceKnizewski L, 2007, BMC STRUCT BIOL, V7, DOI 10.1186/1472-6807-7-40eng
hcfmusp.relation.referenceKornblum C, 2013, NAT GENET, V45, P214, DOI 10.1038/ng.2501eng
hcfmusp.relation.referenceRichards S, 2015, GENET MED, V17, P405, DOI 10.1038/gim.2015.30eng
hcfmusp.relation.referenceSteczkiewicz K, 2012, NUCLEIC ACIDS RES, V40, P7016, DOI 10.1093/nar/gks382eng
hcfmusp.relation.referenceZhu ZH, 2017, ADV EXP MED BIOL, V1038, P219, DOI 10.1007/978-981-10-6674-0_15eng
hcfmusp.scopus.lastupdate2024-05-17
relation.isAuthorOfPublicationce9d8f9a-caa7-4fdb-bcff-9b2a926cd997
relation.isAuthorOfPublication77e002ff-eb28-44e1-aeb2-6fa4f25aefe1
relation.isAuthorOfPublication.latestForDiscoveryce9d8f9a-caa7-4fdb-bcff-9b2a926cd997
Arquivos
Pacote Original
Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
Nome:
art_ROCHA_A_case_of_mitochondrial_DNA_depletion_syndrome_type_2023.PDF
Tamanho:
1.46 MB
Formato:
Adobe Portable Document Format
Descrição:
publishedVersion (English)
Baixar
Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/45