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Volumn 125, Issue 1, 2013, Pages 169-171
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Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures
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Author keywords
[No Author keywords available]
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Indexed keywords
CREATINE KINASE;
ADOLESCENT;
ADULT;
CAP STRUCTURE MYOPATHY;
CASE REPORT;
DISEASE COURSE;
FEMALE;
FORCED VITAL CAPACITY;
GENE;
GENE DELETION;
GENE MUTATION;
GENETIC ASSOCIATION;
HETEROZYGOTE;
HUMAN;
HUMAN TISSUE;
JOINT MOBILITY;
LETTER;
MALE;
MOSAICISM;
MUSCLE BIOPSY;
MUSCLE WEAKNESS;
MYOPATHY;
NEMALINE MYOPATHY;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PHENOTYPE;
PHYSICAL EXAMINATION;
PRIORITY JOURNAL;
SCOLIOSIS;
SEPN1 GENE;
SOMATIC MOSAICISM;
TPM2 GENE;
ADOLESCENT;
FEMALE;
HUMANS;
MALE;
MIDDLE AGED;
MOSAICISM;
MUSCLE, SKELETAL;
MUTATION;
MYOPATHIES, NEMALINE;
TROPOMYOSIN;
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EID: 84872315953
PISSN: 00016322
EISSN: 14320533
Source Type: Journal
DOI: 10.1007/s00401-012-1049-6 Document Type: Letter |
Times cited : (14)
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References (8)
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