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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| Principais autores: | , , , |
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| Formato: | article |
| Idioma: | English |
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Brain
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| Endereço do item: | https://repositorio.ufrn.br/handle/123456789/54166 http://dx.doi.org/10.1093/brain/awab301 |
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