Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24081
Abstract: Biallelic mutations in the C1QBP gene have been associated with mitochondrial cardiomyopathy and combined respiratory‐chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes, and severity. We studied two unrelated adult patients from consanguineous… read more here.
Keywords: peo mitochondrial; progressive external; mutations c1qbp; external ophthalmoplegia ... See more keywords
Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
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DOI: 10.1002/mdc3.12397
Abstract: Autosomal-dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase c (POLG), which results in heterogeneous clinical phenotypes… read more here.
Keywords: progressive external; ophthalmoplegia; ophthalmoplegia type; dominant progressive ... See more keywords
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1921
Abstract: This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO). read more here.
Keywords: multiple mtdna; progressive external; patients multiple; external ophthalmoplegia ... See more keywords
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia
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DOI: 10.1080/01676830.2017.1423346
Abstract: ABSTRACT Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the… read more here.
Keywords: chronic progressive; progressive external; intracranial hypotension; ophthalmoplegia ... See more keywords
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
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DOI: 10.1212/nxg.0000000000000202
Abstract: Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mendelian disorder of mitochondrial DNA (mtDNA) maintenance characterized by restricted eye movements, ptosis, and skeletal muscle–restricted multiple mtDNA deletions.1 Dominantly inherited pathogenic variants of TWNK (GenBank: NM_021830),… read more here.
Keywords: progressive external; opening one; external ophthalmoplegia; one eyes ... See more keywords
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-230017
Abstract: Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2… read more here.
Keywords: chronic progressive; progressive external; cpeo; external ophthalmoplegia ... See more keywords