Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 195-205

  Maggi, L ^a,b   Scoto, M ^a   Cirak, S ^a   Robb, S A ^a   Klein, A ^a,c   Lillis, S ^d   Cullup, T ^d   Feng, L ^a   Manzur, A Y ^a   Sewry, C A ^a,e   Abbs, S ^d   Jungbluth, H ^f,g   Muntoni, F ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d GUY S HOSPITAL   (United Kingdom)

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

^f KING'S COLLEGE LONDON   (United Kingdom)

^g EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

ACTA1; Congenital myopathies; Core myopathy; MTM1; Muscle ultrasound; NEB; RYR1; SEPN1; TPM3

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; DISEASE COURSE; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUSCLE DISEASE; MUTATION; NEWBORN; ONSET AGE; PATHOLOGY; PRESCHOOL CHILD; SKELETAL MUSCLE; UNITED KINGDOM;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GREAT BRITAIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION;

MLCS; MLOWN;

EID: 85027947938     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.004     Document Type: Article

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