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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. ...
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 ...
Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
(Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina, 2016-01-01)
Antecedentes. La distrofia muscular cintura-cadera tipo 1B es una enfermedad con herencia autosómica dominante y secundaria a una mutación en el gen LMNA. Esta enfermedad se caracteriza por su afectación a nivel neuromuscular ...
Phenotypic and immunohistochemical characterization of sarcoglycanopathies
(Faculdade de Medicina / USP, 2011)
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of ...
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 ...
Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes
(Academia Brasileira de Neurologia - ABNEURO, 1991-06-01)
A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All ...