myotonic dystrophy type 1
Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling
... cited. Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat located in the 3 -UTR of (DMPK) the DM protein kinase ...
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Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency
... Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine ...
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Training program induced skeletal muscle adaptations in two men with myotonic dystrophy type 1
... Objective: The purpose of this side product of another unpublished research project, was to address the effects of a training program on skeletal muscle adaptations of people with myotonic dystrophy ...
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Perceived fatigue in myotonic dystrophy type 1: a case-control study
... Myotonic dystrophy type 1 (DM1) is a slowly progressive inherited multisystem disorder, caused by the expansion of an unstable CTG trinucleotide repeat in the DMPK gene on chromosome ...
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PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1
... Cardiac complications are a common cause of death in individuals with the inherited multisystemic disease myotonic dystrophy type 1 (DM1). A characteristic molecular feature of DM1 is ...
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Small molecules which improve pathogenesis of myotonic dystrophy type 1
... Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults leading to disability and shortened lifespan ...
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Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness
... Myotonic dystrophy type 1 (DM1) is a type of inherited disorder called muscular dystrophies that shows autosomal dominant inheritance, and is caused by a cytosine- thymine-guanine (CTG) ...
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Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)
... Myotonic dystrophy type 1 (DM1) is an autosomal dom- inant genetic disorder with high but incomplete pene- trance and the commonest adult-onset form of muscular ...
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Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
... DM1: myotonic dystrophy type 1; Ep: perseverative errors scoring of WCST; FAB: frontal assessment battery; FAS: phonemic verbal fluency test; INQoL: individualized neuromuscular quality of ...
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Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI
... In this cross-sectional study, we included participants with genetically confirmed DM1 and unaffected, apparently healthy controls comparable in age and sex. The patients with DM1 participated in the multicenter randomized ...
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Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients
... Five of our patients (24%) were affected by pulmonary diseases. Three patients (14%; patients 10, 18, 20) had an obstructive airway disease (OAD). In the case of patient 10 the OAD was caused by a stenosis of the left ...
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Overexpression of microRNA 206 in the skeletal muscle from myotonic dystrophy type 1 patients
... Seven unrelated DM1-patients, aged 30-50 years, were diagnosed at the Department of Neurology, University of Padua, Padua, Italy. The diagnosis of DM1 was based on clinical, electromyographic (high frequency repetitive ...
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MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1
... muscular dystrophy, and widely used in reporting muscle fat-infiltration in myopathic muscles [33, ...grade 1: fatty streaks; grade 2: less than 30% fat infiltration; grade 3: more than 30% but less than ...
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Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study
... The prevalence of abnormal findings on Holter- monitoring in patients with (n = 12) and without fibrosis (n = 18) was: AF/AFL (3/12 vs. 1/18, p = 0.27), SVT (2/ 12 vs. 0/18, p = 0.15), AVB grade II (0/12 vs. 3/18, ...
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Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules
... 2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, ...
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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
... A standardized interview was conducted in all partici- pants to evaluate their clinical history and current symptoms. A neurological and cardiac evaluation was conducted by the same examiner (MH) in a predefined ...
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Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia
... muscular dystrophy world- wide, with an estimated prevalence of 1 in ...8000. 1 They are classi fi ed into two main sub- groups, DM type 1 (DM1) and type 2 ...women. 1 4 ...
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In myotonic dystrophy type 1 reduced FDG-uptake on FDG-PET is most severe in Brodmann area 8
... SPM8 analysis of cerebral FDG-PET metabolism in our 24 DM1 patients revealed significant bilateral sym- metrical reduced FDG-uptake in the lateral part of the frontal lobes (Fig. 1). The area with the most severe ...
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Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1
... mental health and social function domains of DM1 are close to the scores of general population, whereas domains related to physical health have wider gaps between DM1 and the population. In Table 2, intercorrelations of ...
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Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort
... the Myotonic Dystrophy Foundation; is a medical advisor for the Myotonic Dystrophy Support Group; and received research funding from the European Union and the Myotonic Dystrophy ...
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