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Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
(WILEY-BLACKWELL, 2008)
The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application ...
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(BioMed Central Ltd.London, 2014-10)
Background: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular
dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and
this ...
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(BioMed Central, 2014-10-04)
Abstract
Background
Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There ...
Telethonin protein expression in neuromuscular disorders
(Elsevier B.V., 2002-10-09)
Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric ...
Hand Function in Muscular Dystrophies: Relationship Between Performance of Upper Limb and Jebsen-Taylor Tests
(Sage Publications Inc, 2017)
The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. ...
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
(BMC, 2020)
Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving ...
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(2014-10-04)
Abstract
Background
Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There ...