Congenital myopathy with focal loss of cross-striations revisited

Neuromuscular Disorders

Volumn 23, Issue 2, 2013, Pages 160-164

  Voermans, N C ^a   Jungbluth, H ^b,c   Aronica, E ^d   Monnier, N ^e   Lunardi, J ^e   Swash, M ^f   de Visser, M ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^c Clinical Neuroscience Division   (United Kingdom)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

Central Core Disease (CCD); Congenital myopathy; Focal loss of cross striations; Multi minicore Disease (MmD); RYR1; Skeletal muscle ryanodine receptor

Indexed keywords

ARGININE; HISTIDINE; RYANODINE RECEPTOR 1;

ADULT; ARTICLE; CASE REPORT; CHILD; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MUSCLE DISEASE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOPATHY; NETHERLANDS; PRESCHOOL CHILD; PRIORITY JOURNAL; RYR1 GENE; SCHOOL CHILD; SKELETAL MUSCLE;

ADULT; BIOPSY; COMORBIDITY; EYE DISEASES, HEREDITARY; FEMALE; FIBROSIS; FOLLOW-UP STUDIES; HETEROZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; NETHERLANDS; OCULAR MOTILITY DISORDERS; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84873203705     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.08.010     Document Type: Article

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