Results 1 to 10 of about 466,013 (152)

Limb-girdle muscular dystrophies in India: A review [PDF]

open access: yesAnnals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar   +3 more
doaj   +3 more sources

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

open access: yesArquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta   +10 more
doaj   +2 more sources

Limb–Girdle Muscular Dystrophies Classification and Therapies [PDF]

open access: yesJournal of Clinical Medicine, 2023
Jacques P. Tremblay, Camille Bouchard
exaly   +2 more sources

Genetic analysis of muscular dystrophies: our experience in Mexico

open access: yesFolia Neuropathologica, 2021
Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness.
Rosa Elena Escobar-Cedillo   +9 more
doaj   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

open access: yesMolecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou   +1 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

open access: yesIndian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah   +2 more
doaj   +1 more source

Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]

open access: yesRomanian Journal of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with ...
Liviu Cozma   +4 more
doaj   +1 more source

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy

open access: yesMuscles, 2023
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions.
Naoufel Chabbi   +2 more
doaj   +1 more source

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