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| http://dx.doi.org/10.1212/NXG.0000000000000268 | DOI Listing |
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Multisystem clinicopathologic and genetic analysis of MELAS.
Orphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Background And Objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
View Article and Find Full Text PDFMitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.
Brain Commun
February 2024
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Mitochondrial myopathies are frequently recognized in childhood as part of a broader multisystem disorder and often overlooked in adulthood. Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies diagnosed in adulthood, focusing on neuromuscular features, electrodiagnostic and myopathological findings and survival. We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005-21).
View Article and Find Full Text PDFHave one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.
Front Neurol
January 2024
The Fourth Clinical Medical College, Guangzhou University of Chinese Medicine, Shenzhen, China.
Article Synopsis
- Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disorder leading to progressive eyelid drooping and eye movement issues, often misdiagnosed as other conditions.
- A case study of a 34-year-old woman illustrates the potential for misdiagnosis, where her symptoms led to incorrect diagnoses of myasthenia gravis and cranial polyneuritis before confirming CPEO through a skeletal muscle biopsy.
- The study highlights the importance of recognizing the varied symptoms of CPEO, summarized findings from 26 similar cases, and reviews diagnostic approaches to differentiate it from other diseases.
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Mol Genet Genomic Med
January 2024
Department of Neurology, Peking University First Hospital, Beijing, China.
Background: Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy.
Objective: The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large-scale mtDNA deletion presenting with PEO.
Methods: This is a retrospective single-center study.
Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.
J Neurol
February 2024
Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Objective: Mitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly affecting proximal/distal or axial muscles, with its phenotypic, genotypic features, and long-term prognosis poorly understood.
Methods: A cross-sectional study conducted at a national diagnostic center for mitochondrial disease involved 47 MiMy patients, from a cohort of 643 mitochondrial disease cases followed up at Qilu Hospital from January 1, 2000, to January 1, 2021. We compared the clinical, pathological, and genetic features of MiMy to progressive external ophthalmoplegia (PEO) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients.
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