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The Muscular Dystrophies [PDF]

open access: possibleSeminars in Neurology, 1999
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset.
K. Flanigan
semanticscholar   +3 more sources

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

Neurology, 2020
Objective 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

The Muscular Dystrophies

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
openaire   +4 more sources

Muscular dystrophies

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
openaire   +3 more sources

Muscular dystrophies

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.
openaire   +3 more sources

Prevalence, pathological mechanisms, and genetic basis of limb‐girdle muscular dystrophies: A review

Journal of Cellular Physiology, 2018
Limb‐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

Myotonic Muscular Dystrophies.

Continuum, 2019
PURPOSE 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

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