Description:
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
LAMIN A/C; LMNA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
| 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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Ethnicity
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Not Hispanic/Latino
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|
Family History
|
N
|
|
Relation to Proband
|
proband
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|
Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
| |
| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
R249Q; EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT |
| Identified Mutation |
ARG249GLN |
| Remarks |
Clinically affected; no family history; lower extremity weakness; walks with no assistance; falls when tired; paroxysmal atrial fibrillation; nonsustained ventricular tachycardia; first degree AV block; Bell's palsy; moderate lumbar lordosis; some difficulty with tandem gait; donor subject has a G>A transition at nucleotide 746 in exon 4 of the LMNA gene (746G>A) resulting in the substitution of glutamine for arginine at codon 249 [Arg249Gln (R249Q)] |
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