Congenital myopathies: Not only a paediatric topic

Current Opinion in Neurology

Volumn 29, Issue 5, 2016, Pages 642-650

  Jungbluth, Heinz ^a,b,c   Voermans, Nicol C ^d  

^a EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Adult presentations; Congenital myopathies; Exertional rhabdomyolysis; Late onset axial myopathy; Skeletal muscle ryanodine receptor gene

Indexed keywords

AMPHIPHYSIN; AMPHIPHYSIN 2; DYNAMIN II; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG; RYANODINE RECEPTOR;

CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CONGENITAL DISORDER; GENE; HUMAN; KELCH REPEAT-AND BTB POZ DOMAIN CONTAINING PROTEIN 13 GENE; MULTIMINICORE DISEASE; MYOPATHY; NEMALINE MYOPATHY; PHENOTYPE; REVIEW; RHABDOMYOLYSIS; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

GENOTYPE; HUMANS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84983088195     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000372     Document Type: Review

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