ANO5 mutations in the Dutch limb girdle muscular dystrophy population

Neuromuscular Disorders

Volumn 23, Issue 6, 2013, Pages 456-460

  Van der Kooi, Anneke J ^a   Ten Dam, Leroy ^a   Frankhuizen, Wendy S ^b   Straathof, Chiara S M ^b   Van Doorn, Pieter A ^c   De Visser, Marianne ^a   Ginjaar, Ieke B ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Anoctamin 5; Frequency; LGMD; Limb girdle muscular dystrophy

Indexed keywords

CREATINE KINASE;

ADULT; AGED; ANO5 GENE; ARTICLE; CARDIOVASCULAR SYSTEM EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DISEASE ACTIVITY; ENZYME ACTIVITY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HEART VENTRICLE SEPTUM; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INTRAVENTRICULAR SEPTUM THICKENING; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; NEUROLOGIC EXAMINATION; ONSET AGE; PRIORITY JOURNAL; RNA SPLICING; SEX DIFFERENCE; SKELETAL MUSCLE;

ADULT; AGED; CHLORIDE CHANNELS; COHORT STUDIES; DISTAL MYOPATHIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR ATROPHY; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NETHERLANDS; PEDIGREE; YOUNG ADULT;

EID: 84878663095     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.03.012     Document Type: Article

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