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Paramyotonia congenita and myotonic dystrophy are not allelic disorders
Cytogenetics and Cell Genetics, 2008More recently it was shown that DM is closely linked to the apolipoprotein C2 gene. These data place the mutation for DM within 5 cM of the APOC2 gene. To verify the clinical suggestion and the results of the membrane studies that DM and PC are genetically distinct disorders, we carried out a linkage study with the APOC2 gene ...
M, Koch +6 more
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Effect of Acetazolamide on Insulin Sensitivity in Myotonic Disorders
Archives of Neurology, 1984Acetazolamide is effective treatment for myotonia in certain patients with myotonia congenita. Since potassium metabolism may be abnormal in myotonia congenita, we studied the effect of acetazolamide administration on potassium regulation and glucose disposal, using the euglycemic insulin clamp technique in patients with myotonic disorders and in ...
A, Corbett +3 more
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Archives of Neurology, 1995
Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders.
K, Ricker +7 more
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Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders.
K, Ricker +7 more
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Myotonia and Myotonic Disorders
1984Myotonia is the delayed relaxation of muscles following voluntary contraction (action myotonia) or mechanical stimulation (percussion myotonia). Action myotonia can be demonstrated by asking the patient to release a tightly clinched fist quickly or by having a patient look down after sustained upgaze.
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Myotonic disorders and periodic paralysis.
Bailliere's clinical neurology, 1994The myotonias are a diverse set of diseases, variable in presentation, often difficult to diagnose and, until now, treated with only a limited degree of success. Recent genetic advances have pinpointed many of the mutations that underlie these disorders and have demonstrated that there may be different causative genetic mutations underlying the same ...
N, Carey, K J, Johnson
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Myotonic dystrophy and cardiac disorders.
Panminerva medica, 2001Myotonic dystrophy (MD) is a multisystem disease affecting numerous organs and systems. Cardiac involvement is frequent. Sudden death, due to fatal cardiac rhythm and conduction disturbances occurs in 30% of patients with MD. The aim of this study was to assess the possibilities and methods of early detection of myocardial and conduction system ...
V, Rakocević-Stojanović +7 more
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Myotonic dystrophy: a multisystemic disorder
2004Abstract Myotonic dystrophy is one of the most variable of all disorders, a factor that has profound implications for its management. The details of this variability and its consequences are reflected in the specific chapters of this book, but in this introductory chapter an overview of the principal clinical aspects is given ...
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