Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
FUKUTIN-RELATED PROTEIN; FKRP
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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 Member
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1
|
|
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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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 |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
826C>A |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.135C>T; silent mutation |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
826C>A |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 2 |
; |
| Identified Mutation |
c.135C>T; silent mutation |
| Remarks |
Symptom onset at age range 11-15 years; cardiac involvement; brain involvement; motor functions achieved and currently maintained: hold head up without assistance, sit without assistance, walk indoors without assistance; motor function achieved but not currently maintained: turn in bed without assistance, stand without assistance, walk outdoors without assistance, climb stairs with a handrail, and run with feet leaving the ground; Fukutin related protein gene (FKRP) sequence analysis result: homozygous for c.826C>A (leucine to isoleucine) DNA variation in exon 4; subject is also homozygous for one known polymorphism: c.135C>T (alanine to alanine) in exon 4 resulting in a silent mutation; MRI or CT scan findings: cerebellar tonsils ( 6 mm below foramen magnum); borderline Chiari 1 malformation; respiratory support used greater than 12 hours a day; see GM23868 for fibroblast. |
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