Description:
EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1
EMERIN; EMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
EMD |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
frameshift stop codon amino acid 238; EMERY-DREIFUSS MUSCULAR DYSTROPHY |
| Identified Mutation |
1712insTGGGC |
| Remarks |
Clinically affected; deceased at age 60 from arrhythmia; well until adulthood, then slowly progressive proximal muscle weakness; cardiomyopathy with heart blockage; elbow contractures; no family history; donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene, resulting in a frameshift and a stop codon at amino acid 238. |
| dbSNP |
dbSNP ID: 21878 |
| Gene Cards |
EMD |
| Gene Ontology |
GO:0005635 nuclear membrane |
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GO:0006936 muscle contraction |
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GO:0007517 muscle development |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:2010 |
| NCBI GTR |
300384 EMERIN; EMD |
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310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 |
| OMIM |
300384 EMERIN; EMD |
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310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 |
| Omim Description |
EDMD |
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EMERIN, INCLUDED; EMD, INCLUDED |
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EMERY-DREIFUSS MUSCULAR DYSTROPHY; EMD |
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EMERY-DREIFUSS SYNDROMESCAPULOPERONEAL SYNDROME, X-LINKED, INCLUDED |
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HUMEROPERONEAL NEUROMUSCULAR DISEASE, INCLUDED |
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MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES |
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