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Progressive external ophthalmoplegia with mitochondrial DNA deletions

MedGen UID:
976875
•Concept ID:
CN294859
•
Disease or Syndrome
Synonyms: progressive external ophthalmoplegia with mitochondrial DNA deletions; progressive external ophthalmoplegia with mtDNA deletions
 
Monarch Initiative: MONDO:0000090
OMIM® Phenotypic series: PS157640

Professional guidelines

PubMed

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A
Genes (Basel) 2020 Dec 31;12(1) doi: 10.3390/genes12010054. PMID: 33396418Free PMC Article
Extraocular mitochondrial myopathies and their differential diagnoses.
Schoser BG, Pongratz D
Strabismus 2006 Jun;14(2):107-13. doi: 10.1080/09273970600701218. PMID: 16760117
Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins S
Intern Med J 2004 Jan-Feb;34(1-2):10-9. doi: 10.1111/j.1444-0903.2004.t01-3-.x. PMID: 14748908

Recent clinical studies

Etiology

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV
Neurologist 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6. PMID: 22931735

Diagnosis

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K, Morino H, Miyamoto R, Matsuda Y, Ohsawa R, Kanaya Y, Tada Y, Kurashige T, Kawakami H
BMC Med Genet 2020 Mar 31;21(1):68. doi: 10.1186/s12881-020-01002-4. PMID: 32234020Free PMC Article
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV
Neurologist 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6. PMID: 22931735

Prognosis

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R
J Hum Genet 2023 Aug;68(8):527-532. Epub 2023 Mar 23 doi: 10.1038/s10038-023-01144-2. PMID: 36959467

Clinical prediction guides

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R
J Hum Genet 2023 Aug;68(8):527-532. Epub 2023 Mar 23 doi: 10.1038/s10038-023-01144-2. PMID: 36959467

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