Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Human Mutation

Volumn 33, Issue 6, 2012, Pages 981-988

  Klein, Andrea ^a,b   Lillis, Suzanne ^c,d   Munteanu, Iulia ^b   Scoto, Mariacristina ^b   Zhou, Haiyan ^b   Quinlivan, Ros ^b,e   Straub, Volker ^f   Manzur, Adnan Y ^b   Roper, Helen ^g   Jeannet, Pierre Yves ^h   Rakowicz, Wojtek ⁱ   Jones, David Hilton ^j   Jensen, Uffe Birk ^k   Elizabethwraige, ^l   Trump, Natalie ^c   Schara, Ulrike ^m   Lochmuller, Hanns ^f   Sarkozy, Anna ^f   Kingston, Helen ⁿ   Norwood, Fiona ^o   Damian, Maxwell ^p   Kirschner, Janbernd ^q   Longman, Cheryl ^r   Roberts, Mark ^s   Auer Grumbach, Michaela ^t   Hughes, Imelda ^u   Bushby, Kate ^f   Sewry, Caroline ^b,v   Robb, Stephanie ^b   Abbs, Stephen ^c   Jungbluth, Heinz ^l,w   Muntoni, Francesco ^b   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ IMPERIAL COLLEGE LONDON   (United Kingdom)

^j JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^k AARHUS UNIVERSITY HOSPITAL   (Denmark)

^l EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^m UNIVERSITY OF DUISBURG ESSEN   (Germany)

ⁿ UNIVERSITY OF MANCHESTER   (United Kingdom)

^o KING S COLLEGE HOSPITAL   (United Kingdom)

^p ADDENBROOKE S HOSPITAL   (United Kingdom)

^q UNIVERSITY OF FREIBURG   (Germany)

^r ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^s SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^t MEDICAL UNIVERSITY OF GRAZ   (Austria)

^u ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

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

^w KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Congenital myopathy; Core myopathies; Genotype; Phenotype; Ryr1

Indexed keywords

RYANODINE RECEPTOR 1;

ADIPOSE TISSUE; ARTICLE; COHORT ANALYSIS; CONNECTIVE TISSUE; EXTRAOCULAR MUSCLE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; MUSCLE WEAKNESS; MYOPATHY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84865166292     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22056     Document Type: Article

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