Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Muscle and Nerve

Volumn 50, Issue 4, 2014, Pages 610-613

  Lahoria, Rajat ^a   Winder, Thomas L ^b   Lui, Jie ^b   Al Owain, Mohammed A ^c,d   Milone, Margherita ^a  

^a MAYO CLINIC   (United States)

^b Prevention Genetics   (United States)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Amyloidosis; ANO5; ANO5 deletion; Anoctaminopathy; Hyper CK emia; Muscular dystrophy; Pseudometabolic myopathy; Rhabdomyolysis

Indexed keywords

ACYLCARNITINE; AMYLOID; DYSFERLIN; GLYCOLYTIC ENZYME; THYROTROPIN; ANO5 PROTEIN, HUMAN; CHLORIDE CHANNEL;

ADULT; ANOCTAMIN 5 GENE; ARTICLE; BLOOD VESSEL WALL; CARDIOMYOPATHY; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DIABETES MELLITUS; ECHOCARDIOGRAPHY; ELECTROPHORESIS; ELECTROPHYSIOLOGY; GASTROCNEMIUS MUSCLE; GENE; GENE DELETION; HOSPITALIZATION; HUMAN; IMMUNOREACTIVITY; INGUINAL HERNIA; INTRON; MALE; MEDICAL HISTORY; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; MYOGLOBINURIA; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL ACTIVITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN URINE LEVEL; RHABDOMYOLYSIS; SAUDI ARABIA; SEQUENCE ANALYSIS; SKIN FIBROBLAST; THORAX PAIN; CASE REPORT; COMPLICATION; GENETICS; HOMOZYGOTE; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

CHLORIDE CHANNELS; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYALGIA; RHABDOMYOLYSIS;

EID: 84922481177     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24302     Document Type: Article

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