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

Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern

(2015) Karolina Hankiewicz et al.   MUSCLE & NERVE

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2013) Maria J. Melià et al.   BRAIN

Selenoprotein N in skeletal muscle: from diseases to function

(2012) Perrine Castets et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

SEPN1-related myopathies: Clinical course in a large cohort of patients

(2011) M. Scoto et al.   NEUROLOGY

Muscle MRI: Out of the tunnel

(2011) Flaviana Bianco et al.   NEUROMUSCULAR DISORDERS

Muscle Imaging in Congenital Myopathies

(2011) Susana Quijano-Roy et al.   Seminars in Pediatric Neurology

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

A mutation in theSEPN1selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads toSEPN1-related myopathy

(2008) Baijayanta Maiti et al.   HUMAN MUTATION