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Volumn 55, Issue 11, 2000, Pages 1689-1696
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A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
f
NONE
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Author keywords
[No Author keywords available]
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Indexed keywords
ALANINE;
RYANODINE RECEPTOR;
THREONINE;
ADOLESCENT;
ADULT;
AGED;
ARTICLE;
AUTOSOMAL DOMINANT DISORDER;
CENTRAL CORE DISEASE;
CHROMOSOME 1;
CHROMOSOME 19Q;
CLINICAL ARTICLE;
CLINICAL FEATURE;
CONGENITAL DISORDER;
DNA SEQUENCE;
FEMALE;
GENE LOCUS;
GENE MUTATION;
GENETIC LINKAGE;
HISTOPATHOLOGY;
HUMAN;
HUMAN TISSUE;
IMMUNOFLUORESCENCE;
MALE;
MUSCLE BIOPSY;
MYOPATHY;
NEMALINE MYOPATHY;
NUCLEOTIDE SEQUENCE;
PRIORITY JOURNAL;
RECEPTOR GENE;
SINGLE STRAND CONFORMATION POLYMORPHISM;
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EID: 0034642231
PISSN: 00283878
EISSN: None
Source Type: Journal
DOI: 10.1212/WNL.55.11.1689 Document Type: Article |
Times cited : (131)
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References (35)
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