The limb-girdle muscular dystrophies--diagnostic strategiesKate Bushby
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
Biochim Biophys Acta 1772:238-42. 2007
..This brings advantages for the patients of today in recognising the specific risks of their disorders, and in the future will be the starting point for specific gene and protein based therapies...
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscleLars Klinge
Institute of Human Genetics, International Centre for Life, University of Newcastle, Newcastle upon Tyne NE1 3BZ, UK
Muscle Nerve 41:166-73. 2010
..These findings indicate that dysferlin is necessary for correct T-tubule formation, and dysferlin-deficient skeletal muscle is characterized by abnormally configured T-tubules...
New aspects on patients affected by dysferlin deficient muscular dystrophyLars Klinge
University of Newcastle, Institute of Human Genetics, The Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
J Neurol Neurosurg Psychiatry 81:946-53. 2010
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- Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism
Ralf Bauer
Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK
Neuromuscul Disord 20:21-8. 2010
..This study demonstrates the beneficial effects of oral spironolactone on cardiac haemodynamics in Sgcd-null mice and its ability to prevent some of the adverse effects of glucocorticoids...
- Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency
Alasdair J Wood
International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Hum Mol Genet 20:4879-90. 2011
..Despite anecdotal reports about vascular abnormalities in patients affected by dystroglycanopathies, the clinical relevance of such lesions remains unclear and should be subject to further review and investigations...
- Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
Anna Sarkozy
Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
Eur J Hum Genet 19:1038-44. 2011
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- Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Lars Klinge
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, NE1 3BZ Newcastle upon Tyne, UK
Neuromuscul Disord 18:934-41. 2008
..A concomitant reduction of dystrophin and beta-dystroglycan was observed more frequently than previously reported and illustrates the important differential diagnosis of DMD and BMD for sarcoglycan deficient LGMD...
- Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
Yen Hui Chiu
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Hum Mol Genet 18:1976-89. 2009
..This study reveals a novel pathomechanism affecting muscle regeneration and maintenance in dysferlinopathy and highlights enhancement of the neutrophil response as a potential therapeutic avenue in these disorders...
- Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
Juliane S Muller
Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Hum Mol Genet 19:1726-40. 2010
..Our findings in the zebrafish model contribute to a better understanding of the signalling pathways at the NMJ and the pathomechanisms of DOK7 CMSs...
- Caveolinopathy--new mutations and additional symptoms
Ahmed Aboumousa
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Neuromuscul Disord 18:572-8. 2008
..Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life...
- Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy
Ralf Bauer
Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
Eur J Heart Fail 11:463-71. 2009
..We aimed to determine the effects of steroids and ACE-I on development of left ventricular dysfunction in the mdx mouse, a model for dystrophin-deficient cardiomyopathy...
- Interventions for muscular dystrophy: molecular medicines entering the clinic
Kate Bushby
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
Lancet 374:1849-56. 2009
..Various therapeutic targets are being investigated, from personalised medicines targeting specific mutations and drugs targeting cellular pathways to gene-based and cell-based therapies...
- Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy
Ralf Bauer
Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
Eur J Heart Fail 12:1163-70. 2010
..Patients with mutations predisposing to cardiomyopathy often have routine assessments of left ventricular function. It is unclear whether asymptomatic mild cardiomyopathy should be treated with standard heart failure therapies...
- Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle
Louise H Jørgensen
Institute of Human Genetics, International Centre of Life, Newcastle University, Newcastle upon Tyne, UK
Am J Pathol 178:273-83. 2011
..These findings highlight the importance of analyzing several time points throughout the life of the treated mice, as well as analyzing many tissues, to get a complete picture of treatment efficacy...
- Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Ralf Bauer
Institute of Human Genetics, Newcastle University, International Center for Life, Newcastle upon Tyne, UK
Eur J Hum Genet 17:1148-53. 2009
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- Presymptomatic late-onset Pompe disease identified by the dried blood spot test
Matias Wagner
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Neuromuscul Disord 23:89-92. 2013
..The case highlights the variability in clinical phenotype and difficulties to diagnose late-onset Pompe disease. Dried Blood Spot (DBS) might be the most sensitive tool to pick up mildly symptomatic patients...
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
Fiona L M Norwood
Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Brain 132:3175-86. 2009
..The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass...
- Limb-girdle muscular dystrophies
Michela Guglieri
Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Curr Opin Neurol 21:576-84. 2008
..The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs)...
- MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise
Penelope Garrood
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom
J Magn Reson Imaging 30:1130-8. 2009
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- Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival
Michelle Eagle
University of Newcastle and Newcastle upon Tyne Hospitals Trust, New Castle Muscle Centre, Institute of Genetics, Center for Life, Central Parkway, Newcastle, NE13BZ, UK
Neuromuscul Disord 17:470-5. 2007
..To determine the long term survival in patients with Duchenne muscular dystrophy (DMD) following spinal surgery and nocturnal ventilation...
- Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
Paul Thornhill
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
Brain 131:1551-61. 2008
..Further characterization of the developmental processes affected in FKRP morphant embryos may lead to a better understanding of the pathological spectrum observed in muscular dystrophies associated with mutations in the human FKRP gene...
- Molecular treatments in Duchenne muscular dystrophy
Michela Guglieri
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom
Curr Opin Pharmacol 10:331-7. 2010
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- Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy
Anna Mayhew
Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
Dev Med Child Neurol 53:535-42. 2011
..In this study, we used Rasch analysis to test its suitability in these roles as a measurement instrument...
- How to go about diagnosing and managing the limb-girdle muscular dystrophies
Michela Guglieri
Department of Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom
Neurol India 56:271-80. 2008
..This article will concentrate on the diagnostic process by which these disorders can be defined and the implications of making these diagnoses...
- From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
Lars Klinge
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Pkwy, NE1 3BZ Newcastle upon Tyne, England, UK
FASEB J 21:1768-76. 2007
..These results shed light on the dynamics of muscle membrane repair and are highly indicative of a specific role of dysferlin in this process in early myogenesis...
- The childhood limb-girdle muscular dystrophies
Volker Straub
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Newcastle upon Tyne, United Kingdom
Semin Pediatr Neurol 13:104-14. 2006
..In this review, the best characterized childhood limb-girdle muscular dystrophies are discussed and their management aspects highlighted...
- Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
Maja Poppe
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
Ann Neurol 56:738-41. 2004
..These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management...
- Nonmolecular treatment for muscular dystrophies
Kate Bushby
Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Curr Opin Neurol 18:511-8. 2005
..This review highlights emerging evidence on the management of patients with muscular dystrophies...
- 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands
Heinz Jungbluth
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Neuromuscul Disord 14:754-66. 2004
- The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations
Patrick Frosk
Department of Biochemistry, University of Manitoba, Winnipeg, Canada
Hum Mutat 25:38-44. 2005
..The occurrence of this mutation on a common core haplotype suggests that L276I is a founder mutation that is dispersed among populations of European origin...
- Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
Eugenio Mercuri
Department of Paediatrics and Neonatal Medicine, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Neuromuscul Disord 15:164-71. 2005
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- Titinopathies: what happens when a big gene mutates in a big family?
Duygu Selcen
Neurology 64:596-7. 2005
- Continued need for caution in the diagnosis of Duchenne muscular dystrophy
Robert C Griggs
Neurology 64:1498-9. 2005
- Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Caroline Godfrey
Dubowitz Neuromuscular Unit, Hammersmith Hospital, Imperial College, London, UK
Brain 130:2725-35. 2007
..Mutations in these five glycosyltransferase genes were detected in 34% of patients indicating that, after the exclusion of FKRP, the majority of patients with a dystroglycanopathy harbour mutations in novel genes...
- Dysferlin-deficient muscular dystrophy features amyloidosis
Simone Spuler
Muscle Research Unit, Experimental and Clinical Research Center at the Charité and the Max Delbrück Center, Berlin, Germany
Ann Neurol 63:323-8. 2008
..Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood...
- Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
Yanchao Huang
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mol Genet 17:1855-66. 2008
..Thus, our findings suggest interconnectivity between both diseases by revealing a novel physiological role for CAPN3 in regulating the dysferlin protein complex...
- Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
Guglielmina Pepe
Department of Internal Medicine, University of Rome 'Tor Vergata, Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy
Neuromuscul Disord 12:984-93. 2002
