Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

Journal of Neurology

Volumn 261, Issue 12, 2014, Pages 2424-2428

  Musumeci, Olimpia ^a   Brady, Stefen ^b   Rodolico, Carmelo ^a   Ciranni, Annamaria ^a   Montagnese, Federica ^a   Aguennouz, M’hammed ^a   Kirk, Richard ^c   Allen, Elizabeth ^c   Godfrey, Richard ^b,d   Romeo, Sara ^a   Murphy, Elaine ^b   Rahman, Shamima ^e   Quinlivan, Ros ^b,e   Toscano, Antonio ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d BRUNEL UNIVERSITY   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Glycogenosis; Metabolic myopathy; Muscle enolase; Rhabdomyolysis

Indexed keywords

BETA ENOLASE; ENOLASE; GLYCOGEN; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ADULT; ANURIA; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LIPID STORAGE; MALE; MISSENSE MUTATION; MOTOR UNIT POTENTIAL; MUSCLE BETA ENOLASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MYALGIA; MYOGLOBINURIA; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECURRENT DISEASE; RHABDOMYOLYSIS; URINE COLOR; GENETICS; HOMOZYGOTE; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ADULT; HOMOZYGOTE; HUMANS; MALE; MUSCLE CRAMP; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYALGIA; PHOSPHOPYRUVATE HYDRATASE; RHABDOMYOLYSIS;

EID: 84921936573     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7512-7     Document Type: Article

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