Description:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
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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
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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 |
DYSF |
| Chromosomal Location |
2p13.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.1398-1G>A |
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| Gene |
DYSF |
| Chromosomal Location |
2p13.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.2071C>T (pQ691X) |
| Remarks |
Clinically affected; symptom onset at 27 years of age; diagnosis at 28 years of age; mildly obese (BMI 36); hypertension;
significant proximal weakness; primarily lower extremity weakness; ambulatory with history of frequent falls; needs to hang on to something while standing; knee, join, ankle, and hip pain while standing; cannot fully walk on heels; cannot walk on “tiptoes”; slightly exaggerated lumbar lordosis when walking; gait extremely tenuous; foot drop while walking; weakness in hands that affects grip, R>L; activities that require wrist flexion are difficult; difficulty with daily activities such as doing laundry and cooking;
myopathic motor unit potentials more in lower extremities than upper extremities with complex repetitive discharges; dysferlin absent on western blot and calpain reduced; elevated CK level (5,080); donor subject has 2 mutations in the DYSF gene ([c.1398-1G>A]+[c.2071C>T (pQ691X)]);
subject takes celebrex for joint pain; assistive devices include cane and wheelchair which is only used outside of the home for longer distances.
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