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Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. [PDF]
J Neuromuscul DisBaskar D +10 more
europepmc +1 more source
Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. [PDF]
J Neurol Neurosurg PsychiatryLeone E +5 more
europepmc +1 more source
The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy.
E. Mercuri +2 more
semanticscholar +7 more sources
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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 ...
John C. Carter +3 more
semanticscholar +3 more sources
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 ...
John C. Carter +3 more
semanticscholar +3 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.
openaire +5 more sources
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 +5 more sources
The Lancet, 2002
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire +5 more sources
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire +5 more sources
Untangling the complexity of limb‐girdle muscular dystrophies
Muscle and Nerve, 2018T. Liewluck, M. Milone
semanticscholar +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources