Description:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
CALPAIN 3; CAPN3
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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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Ethnicity
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IRISH/POLISH/AMISH
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Family History
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N
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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 LINE assay |
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| Gene |
CAPN3 |
| Chromosomal Location |
15q15.1-q21.1 |
| Allelic Variant 1 |
mRNA reading frame maintained; LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A |
| Identified Mutation |
598_612del |
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| Gene |
CAPN3 |
| Chromosomal Location |
15q15.1-q21.1 |
| Allelic Variant 2 |
I113T; LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A |
| Identified Mutation |
ILE113THR |
| Remarks |
Clinically affected; onset of symptoms at age 20 years; donor subject is a compound heterozygote: one allele has a 15 bp deletion beginning at nucleotide 598 of the CAPN3 gene(598_612del) and the second allele has a T>C transition at nucleotide 338 (338T>C) resulting in the substitution of threonine for isoleucine at codon 113 [Ile113Thr (I113T)] |
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