CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

Neuromuscular Disorders

Volumn 26, Issue 8, 2016, Pages 504-510

  Scalco, Renata Siciliani ^a,b   Gardiner, Alice R ^a   Pitceathly, Robert D S ^a,c   Hilton Jones, David ^d   Schapira, Anthony H ^a   Turner, Chris ^a   Parton, Matt ^a   Desikan, Mahalekshmi ^a   Barresi, Rita ^e,f   Marsh, Julie ^e   Manzur, Adnan Y ^g   Childs, Anne Marie ^h   Feng, Lucy ^g   Murphy, Elaine ⁱ   Lamont, Phillipa J ^j   Ravenscroft, Gianina ^k   Wallefeld, William ^l   Davis, Mark R ^l   Laing, Nigel G ^k,l   Holton, Janice L ^a   Fialho, Doreen ^a   Bushby, Kate ^f   Hanna, Michael G ^a   Phadke, Rahul ^a,g   Jungbluth, Heinz ^c,m,n   Houlden, Henry ^a   Quinlivan, Ros ^a,g   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MINISTRY OF EDUCATION OF BRAZIL   (Brazil)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e NEWCASTLE DENTAL HOSPITAL   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

ⁱ NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^j ROYAL PERTH HOSPITAL   (Australia)

^k UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^l QEII Medical Centre   (Australia)

^m EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

CAV3; Caveolinopathy; Exercise Intolerance; Myalgia; Myoglobinuria; Rhabdomyolysis

Indexed keywords

CAVEOLIN 3; ISOLEUCINE; PHENYLALANINE; SERINE; VALINE; CAV3 PROTEIN, HUMAN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN;

ADOLESCENT; ADULT; ANTIBODY LABELING; ARTICLE; CASE STUDY; CAVEOLINOPATHY; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EXERCISE INTOLERANCE; FEMALE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE CONTRACTION; MUTATIONAL ANALYSIS; MYALGIA; MYOPATHY; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; PATIENT ASSESSMENT; PERCUSSION; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD; SKELETAL MUSCLE; SYMPTOMATOLOGY; EXERCISE; EXERCISE TOLERANCE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PHYSIOLOGY; VERY ELDERLY;

ADOLESCENT; ADULT; AGED, 80 AND OVER; CAVEOLIN 3; CHILD; DYSTROGLYCANS; EXERCISE; EXERCISE TOLERANCE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MUTATION; MYALGIA; PHENOTYPE; RHABDOMYOLYSIS;

EID: 84990955158     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2016.05.006     Document Type: Article

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