Central core myopathy with RYR1 mutation masks 5q Spinal Muscular Atrophy

European Journal of Paediatric Neurology

Volumn 15, Issue 1, 2011, Pages 70-73

  Pandey, R ^a   Chandratre, S ^b   Roberts, A ^c   Dwyer, J S M ^d   Sewry, C ^c   Quinlivan, R ^c  

^a SANDWELL GENERAL HOSPITAL   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

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

^d UNIVERSITY HOSPITAL OF NORTH STAFFORDSHIRE   (United Kingdom)

Author keywords

Central core myopathy; RYR1 mutation; Spinal muscular atrophy

Indexed keywords

RYANODINE RECEPTOR 1;

ADULT; ARTICLE; CASE REPORT; CENTRAL CORE DISEASE; CHILD; CHROMOSOME 5Q; ELECTROMYOGRAM; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MEDICAL HISTORY; MUSCLE BIOPSY; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; BIOPSY; CHILD; CHROMOSOMES, HUMAN, PAIR 5; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; YOUNG ADULT;

EID: 78651377408     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2010.04.003     Document Type: Article

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