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. 2018 Nov 15;394:63-67.
doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5.

Milder Forms of α-Sarcoglicanopathies Diagnosed in Adulthood by NGS Analysis


Milder Forms of α-Sarcoglicanopathies Diagnosed in Adulthood by NGS Analysis

Diana Cantero et al. J Neurol Sci. .


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 12-16 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.

Keywords: Immunohistochemistry; Limb-girdle muscular dystrophies; Next generation sequencing; SGCA; Sarcoglicanopathies; Western-blot.

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