Article
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Journal of the neurological sciences - 15 Nov 2018
Cantero Diana, Hernández-Laín Aurelio, Martínez Juan Francisco Gonzalo, Pérez María Rabasa, Ruano Yolanda, Lleixà Cinta, Gallardo Eduard, Domínguez-González Cristina
Abstract excerpt
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...
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