Review
Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review
Fecha
2019Registro en:
234, 6, 7874-7884
00219541
Autor
Taghizadeh E.
Rezaee M.
Barreto G.E.
Sahebkar A.
Institución
Materias
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Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
KOLSKI, Hanna K.; HAWKINS, Cynthia; ZATZ, Mayana; PAULA, Flavia de; BIGGAR, Doug; ALMAN, Ben; VAJSAR, Jiri (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
Cotta, Ana; Paim, Julia Filardi; da-Cunha-Junior, Antonio Lopes; Xavier Neto, Rafael; Nunes, Simone Vilela; Navarro, Monica Magalhães; Valicek, Jaquelin; Carvalho, Elmano; Yamamoto, Lydia U; Almeida, Camila de Freitas; Braz, Shelida Vasconcelos; Takata, Reinaldo Issao; Vainzof, Mariz (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
Cotta, Ana; Paim, Julia Filardi; da-Cunha-Junior, Antonio Lopes; Neto, Rafael X; Nunes, Simone Vilela; Navarro, Monica Magalhães; Valicek, Jaquelin; Carvalho, Elmano; Yamamoto, Lydia U; Almeida, Camila F; Braz, Shelida V; Takata, Reinaldo I; Vainzof, Mariz (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 ...