Abstract:SUMMARY Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.Myotubular myopathy (Spiro et al., 1966) is an entity defined by its morphological muscular alterations. The disease displays a notable clinical variability and marked genetic heterogeneity . Usually it is present … Show more
“…Myotonia has previously been reported in patients with CNM 18 including DNM2 mutations, 19 and in a single patient with BIN1 mutations. 3 Our observation of clinical and/or electrical myotonia in 3 patients confirms this association, bringing CNM, and BIN1 mutations in particular, into the differential diagnosis for myotonic disorders.…”
We have identified a founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.
“…Myotonia has previously been reported in patients with CNM 18 including DNM2 mutations, 19 and in a single patient with BIN1 mutations. 3 Our observation of clinical and/or electrical myotonia in 3 patients confirms this association, bringing CNM, and BIN1 mutations in particular, into the differential diagnosis for myotonic disorders.…”
We have identified a founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.
“…Myotonic discharge without clinical myotonia can be seen in polymyositis, acid maltase deficiency, and so on. [ 3 ] In 1978, Gil-Peralta et al [ 4 ] firstly reported clinical myotonia in a case of CNM, while during the same period, CNM cases with electrical myotonia have been reported. Although these cases had no genetic tests to identify the casual gene, they were distinct from dystrophic myotonia due to the clinical and pathologic presentations.…”
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