Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10148121 | Journal of the Neurological Sciences | 2018 | 5 Pages |
Abstract
Introduction: Sarcoglycanopathies (LGMD 2C2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16â¯years. Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy. Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.
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Authors
Diana Cantero, Aurelio Hernández-LaÃn, Juan Francisco Gonzalo MartÃnez, MarÃa Rabasa Pérez, Yolanda Ruano, Cinta Lleixà , Eduard Gallardo, Cristina DomÃnguez-González,