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Article

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

European journal of pediatrics - 1 Aug 2016

Ardissone Anna, Bragato Cinzia, Blasevich Flavia, Maccagnano Elio, Salerno Franco, Gandioli Claudia, Morandi Lucia, Mora Marina, Moroni Isabella

Abstract excerpt

UNLABELLED: Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a congenital myopathy pattern with myofibrillar disorganization. We report on clinical and instrumental features in three patients affected with a congenital myopathy...

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PMID: 26780752
DOI: 10.1007/s00431-015-2685-3

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