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Neuromuscular Disorders
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#1Johanna PalmioH-Index: 23
#2Per Jonson (UH: University of Helsinki)
Last. Bjarne Udd (UH: University of Helsinki)H-Index: 52
view all 17 authors...
Abstract Eight patients from five families with undiagnosed dominant distal myopathy underwent clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies were performed using targeted sequencing of all known myopathy genes followed by segregation of the identified mutations in the affected families using Sanger sequencing. Two novel mutations in DNAJB6 J domain, c.149C>T (p.A50V) and c.161A>C (p.E54A), were identified as the cause of disease. The muscle involvement wi...
3 CitationsSource
#1Wenninger Stephan (LMU: Ludwig Maximilian University of Munich)
#2Stahl Kristina (LMU: Ludwig Maximilian University of Munich)
Last. Schoser Benedikt (LMU: Ludwig Maximilian University of Munich)
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Abstract To assess whether different cut-offs of maximum inspiratory and/or expiratory pressure (MIP/MEP) are valuable screening parameters to detect restrictive respiratory insufficiency. Spirometry, MIP, MEP and capillary blood gas analysis were obtained from patients with confirmed neuromuscular disorders. We calculated regression analysis, sensitivity, specificity and predictive values. We enrolled 29 with Myotonic Dystrophy Type 1, 19 with late-onset Pompe disease, and 24 with Spinal muscul...
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#1Albert Lim (Newcastle University)H-Index: 2
#2Grace McMacken (Newcastle University)H-Index: 7
Last. Chiara Marini-Bettolo (Newcastle University)H-Index: 6
view all 12 authors...
Abstract Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNATyr, are a rare cause of mitochondrial disease. Here we describe a novel m.5860delTA anticodon variant in the MT-TY gene in a patient who initially presented with features akin to a childhood onset myasthenic syndrome. Using histochemical, immunohistochemical and protein st...
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#1Anne-Sofie Vibæk Eisum (UCPH: University of Copenhagen)H-Index: 1
#2Freja Fornander (UCPH: University of Copenhagen)H-Index: 2
Last. John Vissing (UCPH: University of Copenhagen)H-Index: 46
view all 8 authors...
Abstract The ratio between muscle strength and muscle cross-sectional area is called the specific force. Fatty replacement of muscles is seen in many myopathies, affecting the specific force, without necessarily affecting the ability of the remaining muscle fibers to contract. This ability is called the contractility and is the ratio between muscle strength and the lean muscle cross-sectional area, i.e. the contractile cross-sectional area. We hypothesized that contractility is disrupted in pati...
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Abstract We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles ...
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#1C. Tian (University of Cincinnati Academic Health Center)H-Index: 3
#2Brenda Wong (University of Cincinnati Academic Health Center)H-Index: 30
Last. Meilan M. Rutter (University of Cincinnati Academic Health Center)H-Index: 11
view all 7 authors...
Abstract Osteoporosis is a major problem in patients with Duchenne Muscular Dystrophy (DMD), due to glucocorticoid therapy and muscle weakness. Evidence on which to base optimal prevention and treatment strategies, including bisphosphonate use, in DMD are limited. Our objective was to describe bone health outcomes of oral alendronate treatment in patients with DMD and glucocorticoid-induced osteoporosis. We retrospectively studied 54 patients treated between 2005 and 2017, and assessed changes i...
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#1Honghao Li (SDU: Shandong University)
#2Yuan Xue (SDU: Shandong University)
Last. Cuicui Liu (SDU: Shandong University)
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Abstract A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome (ATS). Although his father carried the same genetic mutation (p.G300A), he experienced minor and infrequent attacks of paralysis. A change in the patient's symptoms, such as accompanying pain, contracture, and significa...
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#1Stephanie C. Schüssler (FAU: University of Erlangen-Nuremberg)H-Index: 1
#2Teresa Gerhalter (FAU: University of Erlangen-Nuremberg)H-Index: 3
Last. Regina Trollmann (FAU: University of Erlangen-Nuremberg)H-Index: 16
view all 6 authors...
Abstract Dystrophinopathies are predominantly caused by deletions, duplications and point mutations in the coding regions of the dystrophin gene with less than 1% of all pathogenic mutations identified within intronic sequences. We describe a 17-year-old male with a Becker muscular dystrophy diagnosis and mental disability due to an intron mutation that led to aberrant splicing and formation of an additional exon. Histopathological analysis of muscle tissue revealed signs of muscular dystrophy a...
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#1Giulia Barcia (Necker-Enfants Malades Hospital)H-Index: 11
#2Sonia Khirani (University of Paris)H-Index: 13
Last. Agnès Rötig (Necker-Enfants Malades Hospital)H-Index: 69
view all 14 authors...
Abstract Diaphragmatic dysfunction has been reported in congenital myopathies, muscular dystrophies, and occasionally, mitochondrial respiratory chain deficiency. Using a minimally invasive procedure in 3 young girls—1 with a heteroplasmic MT-CYB mutation and 2 with biallelic pathogenic TK2 variants—we provided functional evidence of diaphragmatic dysfunction with global respiratory muscle weakness in mitochondrial respiratory chain deficiency. Analysis of respiratory muscle performance using es...
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#1Ryogen SasakiH-Index: 16
#2Maki Nakaza (Osaka University)
Last. Masanori P. Takahashi (Osaka University)H-Index: 19
view all 6 authors...
Abstract Skeletal muscle channelopathies, including non-dystrophic myotonia and periodic paralysis, are rare hereditary disorders caused by mutations of various ion channel genes. To define the frequency of associated mutations of skeletal muscle channelopathies in Japan, clinical and genetic data of two academic institutions, which provides genetic analysis service, were reviewed. Of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [CLCN1 (n = 30) and SC...
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Top fields of study
Pathology
Duchenne muscular dystrophy
Genetics
Diabetes mellitus
Biology