Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-...

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Veröffentlicht in:	Brain (London, England : 1878) Jg. 145; H. 2; S. 596
Hauptverfasser:	Alonso-Pérez, Jorge, González-Quereda, Lidia, Bruno, Claudio, Panicucci, Chiara, Alavi, Afagh, Nafissi, Shahriar, Nilipour, Yalda, Zanoteli, Edmar, Isihi, Lucas Michielon de Augusto, Melegh, Béla, Hadzsiev, Kinga, Muelas, Nuria, Vílchez, Juan J, Dourado, Mario Emilio, Kadem, Naz, Kutluk, Gultekin, Umair, Muhammad, Younus, Muhammad, Pegorano, Elena, Bello, Luca, Crawford, Thomas O, Suárez-Calvet, Xavier, Töpf, Ana, Guglieri, Michela, Marini-Bettolo, Chiara, Gallano, Pia, Straub, Volker, Díaz-Manera, Jordi
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 18.04.2022
Schlagworte:	Adult Child Humans Muscle Weakness Muscular Dystrophies - genetics Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - genetics Retrospective Studies Sarcoglycanopathies - genetics Sarcoglycans - genetics Sarcoglycans - metabolism delta-sarcoglycan SGCD registries muscular dystrophies LGMD-R6/2F
ISSN:	1460-2156, 1460-2156
Online-Zugang:	Weitere Angaben
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