Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)

Arpa, Javier; Campos, Yolanda; Gutiérrez-Molina, M; Ma, Martin-Casanueva; Cruz-Martínez, A; Mc, Pérez-Conde; López-Pajares, R; Mc, Morales; Tatay, J; Lacasa, T; Barreiro, Pablo; Arenas, Joaquı́n

doi:10.1111/j.1600-0404.1997.tb00241.x

Cited by 9 publications

(1 citation statement)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…4 In another study of 13 patients from a single family carrying the m.8344A > G variant, with heteroplasmy rates between 44% and 83%, 9 probands were asymptomatic. 5 In a study of 23 patients with asymptomatic persisting hyper-CKemia, muscle biopsy revealed morphological abnormalities of mitochondria in 4.4% of the cases. 6 When studying 19 patients with asymptomatic hyper-CKemia, further workup by means of an EMG and muscle biopsy revealed MID in 2 of them.…”

Section: Discussionmentioning

confidence: 99%

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer

Finsterer¹

2022

Journal of Clinical Neuromuscular Disease

View full text Add to dashboard Cite

Isolated and asymptomatic elevation of creatine kinase (hyper-CKemia) can be one of the initial manifestations of a mitochondrial disorder (MID). We present an asymptomatic patient with accidently detected isolated hyper-CKemia and respiratory chain dysfunction as indicators of a chemical and biochemical MID, respectively. A 23-year-old man who performed competitive sport (swimming) underwent workup for accidentally detected asymptomatic and isolated hyper-CKemia. Clinical neurologic examination was normal, but blood tests revealed elevation of creatine kinase (CK), aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Lactate stress testing on a bicycle ergometer was normal. Needle electromyography was noninformative, but muscle biopsy was indicative of a MID, and biochemical investigations revealed a combined complex-II, -III, and -IV defect. Hyper-CKemia persisted asymptomatically over the next 15 years, and he continued with his sports activities. In conclusion, asymptomatic hyper-CKemia together with multiple respiratory chain complex deficiencies can be the only manifestations of a MID over years. Asymptomatic chemical or biochemical MIDs may profit from continuous physical activity. Workup for isolated persisting hyper-CKemia may reveal subclinical mitochondrial pathology in single cases.

show abstract

Section: Discussionmentioning

confidence: 99%

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer

Finsterer¹

2022

Journal of Clinical Neuromuscular Disease

View full text Add to dashboard Cite

show abstract

Prevalence and progression of mitochondrial diseases: A study of 50 patients

et al. 2003

View full text Add to dashboard Cite

We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.

show abstract

Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model

Wei

et al. 2018

Archives of Biochemistry and Biophysics

View full text Add to dashboard Cite

Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)

Cited by 9 publications

References 28 publications

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer

Prevalence and progression of mitochondrial diseases: A study of 50 patients

Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model

Contact Info

Product

Resources

About