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Volumn 20, Issue 4, 2010, Pages 255-259
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The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
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Author keywords
Alpha B Crystallinopathy; Distal myopathy; Filamentous inclusions; Myofibrillar myopathy; Protein aggregates; Vacuolar myopathy
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Indexed keywords
ADHALIN;
ALPHA CRYSTALLIN;
CREATINE KINASE;
DYSFERLIN;
DYSTROPHIN;
GLYCINE;
MEROSIN;
SERINE;
ABDOMINAL WALL MUSCULATURE;
AGED;
ARM MUSCLE;
ARTICLE;
CASE REPORT;
CREATINE KINASE BLOOD LEVEL;
DISTAL MYOPATHY;
ELECTROCARDIOGRAM;
EXTENSOR MUSCLE;
FINGER;
FLEXOR MUSCLE;
FOOT;
GENETIC ASSOCIATION;
GENETIC CONSERVATION;
HEART ATRIUM ENLARGEMENT;
HEART LEFT ATRIUM;
HEART RIGHT BUNDLE BRANCH BLOCK;
HISTOPATHOLOGY;
HUMAN;
IMMUNOHISTOCHEMISTRY;
LATE ONSET DISTAL VACUOLAR MYOPATHY;
LIMB WEAKNESS;
MALE;
MISSENSE MUTATION;
MUSCLE ATROPHY;
MUSCLE BIOPSY;
MUSCLE WEAKNESS;
ONSET AGE;
PHYSICAL EXAMINATION;
PRIORITY JOURNAL;
PROTEIN AGGREGATION;
PROTEIN DOMAIN;
WHOLE BODY MRI;
AGE OF ONSET;
AGED;
ALPHA-CRYSTALLIN B CHAIN;
AMINO ACID SUBSTITUTION;
DISTAL MYOPATHIES;
DNA MUTATIONAL ANALYSIS;
GENETIC PREDISPOSITION TO DISEASE;
GENOTYPE;
HUMANS;
INCLUSION BODIES;
MALE;
MUSCLE FIBERS, SKELETAL;
MUSCLE, SKELETAL;
MUTATION, MISSENSE;
PROTEIN STRUCTURE, TERTIARY;
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EID: 77950932697
PISSN: 09608966
EISSN: None
Source Type: Journal
DOI: 10.1016/j.nmd.2010.01.012 Document Type: Article |
Times cited : (78)
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References (12)
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