Core myopathies

Seminars in Pediatric Neurology

Volumn 18, Issue 4, 2011, Pages 239-249

  Jungbluth, Heinz ^a,b   Sewry, Caroline A ^c   Muntoni, Francesco ^c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; CREATINE KINASE; RYANODINE RECEPTOR 1; SALBUTAMOL; SELENOPROTEIN; SELENOPROTEIN N; UNCLASSIFIED DRUG;

ACTA1 GENE; ARTICLE; CENTRAL CORE DISEASE; CHROMOSOME 19Q; CHROMOSOME 1P; CLINICAL FEATURE; CORE MYOPATHY; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DMN2 GENE; DOMINANT INHERITANCE; EPIDEMIOLOGICAL DATA; EXTERNAL OPHTHALMOPLEGIA; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART FUNCTION TEST; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; LMNA GENE; LUNG FUNCTION TEST; MEDICAL HISTORY; MISSENSE MUTATION; MTM1 GENE; MULTIMINICORE DISEASE; MUSCLE BIOPSY; MUSCLE STIFFNESS; MYALGIA; MYOPATHY; NEB GENE; NONHUMAN; OCCUPATIONAL THERAPY; PATHOGENESIS; PHYSIOTHERAPY; RESPIRATORY TRACT DISEASE; RHABDOMYOLYSIS; RYR1 GENE; SEPN1 GENE; SPEECH THERAPY;

DIAGNOSIS, DIFFERENTIAL; HUMANS; MALLORY BODIES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SCOLIOSIS;

EID: 83455173228     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2011.10.005     Document Type: Article

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