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

European Journal of Pediatrics

Volumn 175, Issue 8, 2016, Pages 1113-1118

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

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Congenital myopathy; Dropped head syndrome; Muscle MRI; SEPN RM; SEPN1

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; SELENOPROTEIN; SELENOPROTEIN N; UNCLASSIFIED DRUG; MUSCLE PROTEIN; SEPN1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; FALLING; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE DEFICIENCY; HEADACHE; HUMAN; HUMAN TISSUE; HYPOTROPHY; INTRACRANIAL HYPERTENSION; LORDOSIS; MACROCEPHALY; MALE; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOPATHY; NASAL SPEECH; NECK WEAKNESS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCOLIOSIS; SHORT STATURE; SPIROMETRY; TENDON REFLEX; UNSTEADY GAIT; VITAL CAPACITY; WEAKNESS; ABNORMALITIES; BRAIN; CHILD; DIAGNOSTIC IMAGING; ELECTROCARDIOGRAPHY; GENETICS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NECK MUSCLE; PRESCHOOL CHILD; RESPIRATORY INSUFFICIENCY;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; ELECTROCARDIOGRAPHY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE PROTEINS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NECK MUSCLES; RESPIRATORY INSUFFICIENCY; SELENOPROTEINS;

EID: 84954451245     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-015-2685-3     Document Type: Article

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