Results 1 to 10 of about 466,057 (189)
Limb-Girdle Muscular Dystrophies
Pediatric Neurology Briefs, 2003 The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
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Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Arquivos 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
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Genetic analysis of muscular dystrophies: our experience in Mexico
Folia 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
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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular 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
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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian 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
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Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]
Romanian 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
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An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy
Muscles, 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
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Frontiers in Pediatrics, 2021 ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and ...
Haiyan Yang +5 more
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Acta Neuropathologica Communications, 2022 The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker +2 more
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Three case series involving progresive motor deficit [PDF]
Romanian Journal of Neurology, 2016 The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana +3 more
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