Publications by authors named "Catherine E Woodward"
Article Synopsis
- Mutations in the MRPL44 gene are linked to mitochondrial ribosome issues and have been found in patients with OXPHOS disorders and hypertrophic cardiomyopathy.
- A 23-year-old patient displayed severe myopathies and a mutation in MRPL44, suggesting a genetic cause beyond typical inheritance patterns.
- Studies show this mutation disrupts mitochondrial protein synthesis, indicating that MRPL44 defects can lead to widespread health problems, including neurological symptoms.
Article Synopsis
- Pyruvate dehydrogenase complex (PDC) deficiency, linked to mutations in the PDHA1 gene, shows varied symptoms in individuals, especially among heterozygous females due to X-chromosome inactivation patterns.
- This study reports two monozygotic twin females with a new missense mutation in PDHA1, who both experienced developmental delays and seizures but differed in disease severity.
- Analysis of X-chromosome inactivation revealed a significant imbalance in one twin (75:25 ratio) compared to nearly equal activity in the other (50:50), suggesting that X-inactivation may play a role in how differently the same genetic mutation affects individuals.
Article Synopsis
- The study aimed to describe the clinical features of individuals with autosomal dominant optic atrophy and cataract (ADOAC) combined with peripheral neuropathy (PN).
- Two families were evaluated, revealing common symptoms like early-onset cataracts, gastrointestinal issues, and varying types of neuropathy, including some cases of axonal neuropathy.
- Genetic analysis identified mutations related to this syndrome, suggesting that ADOAC should be considered in cases of complex inherited peripheral neuropathy, even when optic atrophy signs are not evident.
Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different syndromes and genetic aetiologies. Based on clinical observations, we systematically investigated whether the presence of peripheral neuropathy could predict the underlying genetic defect in patients with progressive external ophthalmoplegia.
View Article and Find Full Text PDFA 62-year-old man presented with diplopia, ocular ductional deficits, and sluggish pupils. Pupillometry demonstrated large hyporeactive pupils with no evidence of damage to the sympathetic or parasympathetic innervation, indicating a myopathy of the iris musculature. A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy.
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