1. Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy.
- Author
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Seijo-Martínez M, Castro del Río M, Campos Y, Palau F, Arenas J, Teijeira S, Fernández Hojas R, and Navarro C
- Subjects
- Age of Onset, Blotting, Southern, Chromosomes, Human, Pair 19, Diagnostic and Statistical Manual of Mental Disorders, Electron Transport Complex III deficiency, Female, Humans, Male, Middle Aged, Myotonic Dystrophy epidemiology, Myotonic Dystrophy genetics, Myotonic Dystrophy metabolism, Myotonin-Protein Kinase, Pedigree, Phenotype, Brain pathology, Electron Transport Complex III metabolism, Myotonic Dystrophy physiopathology, Protein Serine-Threonine Kinases genetics, Trinucleotide Repeat Expansion
- Abstract
Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by severe neuromuscular symptoms and mental dysfunction with subcortical-type dementia. Neuroradiological abnormalities included brain atrophy, white matter lesions, and basal ganglia calcifications. A very large CTG triplet expansion was present in the DMPK locus in leukocytes in the three patients. One patient showed ragged-red fibers (RRF) and a defect complex III of the respiratory chain, but no mutations were found in the cytochrome b gene of mtDNA.
- Published
- 2003
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