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

Neurology

Volumn 76, Issue 24, 2011, Pages 2073-2078

  Scoto, M ^a   Cirak, S ^a   Mein, R ^b   Feng, L ^a   Manzur, A Y ^a   Robb, S ^a   Childs, A M ^c   Quinlivan, R M ^d   Roper, H ^e   Jones, D H ^f   Longman, C ^g   Chow, G ^h   Pane, M ⁱ   Main, M ^a   Hanna, M G ^j   Bushby, K ^k   Sewry, C ^a,d   Abbs, S ^b   Mercuri, E ^a,i   Muntoni, F ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^e BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^h QUEEN S MEDICAL CENTRE   (United Kingdom)

ⁱ CATHOLIC UNIVERSITY   (Italy)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k INSTITUTE OF HUMAN GENETICS   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; SELENOPROTEIN; SELENOPROTEIN N1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CROSS-SECTIONAL STUDY; DISEASE COURSE; ENZYME BLOOD LEVEL; FEEDING DISORDER; FORCED VITAL CAPACITY; FUNCTIONAL STATUS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GROWTH RATE; HUMAN; HUMAN TISSUE; JOINT CONTRACTURE; MORTALITY; MUSCLE BIOPSY; MUSCLE RIGIDITY; MYOPATHY; NONINVASIVE VENTILATION; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; RESPIRATORY FUNCTION; SCHOOL CHILD; SCOLIOSIS; SPINE SURGERY; SURVIVAL RATE; UNDERWEIGHT; WEIGHT GAIN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CROSS-SECTIONAL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; SELENOPROTEINS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 79959642268     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31821f467c     Document Type: Article

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