Proton Spectroscopy in Myotonic Dystrophy

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Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats.

OBJECTIVES To seek cerebral metabolite abnormalities in patients with myotonic dystrophy and to determine whether the degree of cerebral abnormalities (measured by proton magnetic resonance spectroscopy) correlates with severity of the genetic defect (measured by trinucleotide repeats). DESIGN Fourteen patients with myotonic dystrophy were compared with 24 healthy control subjects. SETTING ...

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OBJECTIVES To evaluate by magnetic resonance spectroscopy the age-related cerebral alterations present in myotonic dystrophy (MD) and to compare these results with those obtained by magnetic resonance imaging. DESIGN Twenty-one patients (aged 16-63 years) with MD were compared with 16 age-matched healthy control subjects. RESULTS In magnetic resonance spectroscopy, the mean (+/- SD) ratio o...

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Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

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myotonic dystrophy

SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...

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ژورنال

عنوان ژورنال: Archives of Neurology

سال: 1998

ISSN: 0003-9942

DOI: 10.1001/archneur.55.3.305