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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Neurology, 2020Objective Genetic diagnosis of muscular dystrophies (MDs) has classically been guided by clinical presentation, muscle biopsy, and muscle MRI data. Muscle MRI suggests diagnosis based on the pattern of muscle fatty replacement.
J. Verdu-Díaz +9 more
semanticscholar +1 more source
New England Journal of Medicine, 1965
ABIOTROPHY of skeletal muscle — that is, degeneration and atrophy after a latent period of apparently normal development and function — is the most obvious common denominator in the group of disorders called the muscular dystrophies. It should be realized, however, that systems other than skeletal muscle are frequently involved in these diseases ...
Wayne S. Zundel, Frank H. Tyler
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ABIOTROPHY of skeletal muscle — that is, degeneration and atrophy after a latent period of apparently normal development and function — is the most obvious common denominator in the group of disorders called the muscular dystrophies. It should be realized, however, that systems other than skeletal muscle are frequently involved in these diseases ...
Wayne S. Zundel, Frank H. Tyler
openaire +4 more sources
The Lancet, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
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Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
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The Indian Journal of Pediatrics, 2004
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Balraj Mittal, Monisha Mukherjee
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Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Balraj Mittal, Monisha Mukherjee
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Prevalence, pathological mechanisms, and genetic basis of limb‐girdle muscular dystrophies: A review
Journal of Cellular Physiology, 2018Limb‐girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of neuromuscular disorders that are associated with weakness and wasting of muscles in legs and arms. Signs and symptoms may begin at any age and usually worsen by time.
E. Taghizadeh +3 more
semanticscholar +1 more source
Current Opinion in Neurology, 2002
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Myotonic Muscular Dystrophies.
Continuum, 2019PURPOSE OF REVIEW This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2.
N. Johnson
semanticscholar +1 more source
2012
The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular ...
Kate Bushby, Una-Marie Sheerin
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The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular ...
Kate Bushby, Una-Marie Sheerin
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Clinics in Chest Medicine, 2018
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
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Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
openaire +2 more sources
The Indian Journal of Pediatrics, 2000
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +3 more sources
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +3 more sources