Results 31 to 40 of about 1,552 (162)
Orphanet Journal of Rare Diseases, 2020 Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high ...
Marzieh Mojbafan +4 more
doaj +1 more source
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.
, 2014 Myoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb-girdle muscular dystrophy.
Strisciuglio P +4 more
core +2 more sources
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects [PDF]
Expert Reviews in Molecular Medicine, 2009 Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins, α-, β-, γ- or δ-sarcoglycan. These four sarcoglycans form a subcomplex that is closely linked to the major dystrophin-associated protein complex, which is essential for membrane integrity during muscle ...
SANDONA', DORIANNA, BETTO R.
openaire +3 more sources
Beta-sarcoglycanopathy: what’s new?
, 2015 Beta-sarcoglycanopathy is an under-researched and underfunded "orphan" disease. Our volunteer organization named Family Group of Beta-sarcoglycanopathy Onlus (GFB Onlus www.lgmd2e.org) was founded in 2013 with the aim of stimulating the scientific ...
R. Maggi +3 more
core +2 more sources
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
doaj +1 more source
, 2022 reservedSarcoglycanopathies (LGMDR3-6) are a family of rare genetic diseases affecting mainly the limb girdle musculature, characterized by myalgia, progressive muscle loss and cardiomyopathy.
FIORE, ELIA
core
Clinical value of 99Tcm-MIBI gated myocardial perfusion imaging in evaluating sarcoglycanopathy [PDF]
, 2019 Aim. The purpose of this study was to analyse the diagnostic value of gated myocardial perfusion imaging (G-MPI) in the evaluation of myocardial injury in sarcoglycanopathy.Materials and methods.
Jing, Jian-Min; Dapartment of Nuclear Medicine, the third Hospital of Hebei Medical University, 050051 Shijiazhuang, China +6 more
core +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
MRI in sarcoglycanopathies: a large international cohort study [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2017 ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.MethodsLower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood ...
Tasca, Giorgio +34 more
openaire +7 more sources
Balkan Journal of Medical Genetics, 2015 Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in
Diniz G +4 more
doaj +1 more source