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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 ...
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 ...
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 ...
Muscle Protein Alterations in LGMD21 Patients With Different Mutations in the Fukutin-related Protein Gene
(HISTOCHEMICAL SOC INC, 2008)
Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder ...