Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

Neuromuscular Disorders

Volumn 23, Issue 2, 2013, Pages 116-119

  Zafeiriou, Dimitrios I ^a   Ververi, Athina ^a   Tsitlakidou, Anastasia ^a   Anastasiou, Athanasia ^b   Vargiami, Euthymia ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b Ippokration Hospital Thessaloniki   (Greece)

Author keywords

Myopathy; Pontocerebellar hypoplasia type 2; Rhabdomyolysis; TSEN54

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTIBIOTIC AGENT; ASPARTATE AMINOTRANSFERASE; BACLOFEN; C REACTIVE PROTEIN; CREATINE KINASE; HALOPERIDOL; LACTATE DEHYDROGENASE; PHENOBARBITAL; VALPROIC ACID;

ABNORMAL RESPIRATORY SOUND; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CASE REPORT; CEREBRAL PALSY; CHILD; CHOREOATHETOSIS; CLINICAL FEATURE; CLONIC SEIZURE; CREATINE KINASE BLOOD LEVEL; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; GENE; GENE MUTATION; HUMAN; HYPERTHERMIA; LABORATORY TEST; LACTATE DEHYDROGENASE BLOOD LEVEL; LOW DRUG DOSE; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT MONITORING; PHYSIOTHERAPY; PNEUMONIA; PONTOCEREBELLAR HYPOPLASIA TYPE 2; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RECURRENT DISEASE; RESPIRATORY TRACT INFECTION; RHABDOMYOLYSIS; SEQUENCE ANALYSIS; THORAX RADIOGRAPHY; TSEN54 GENE;

CHILD, PRESCHOOL; HUMANS; INCIDENCE; MAGNETIC RESONANCE IMAGING; MALE; MYOGLOBINURIA; OLIVOPONTOCEREBELLAR ATROPHIES; RESPIRATORY TRACT INFECTIONS;

EID: 84873209285     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.08.004     Document Type: Article

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