Name：NTCC? NA04569 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA04569
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 38 YR
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Remarks: Clinically affected with Becker muscular dystrophy; presented at age 22 with muscle weakness; initially carried diagnosis of Limb-Girdle muscular dystrophy; calf hypertrophy since childhood; tightness around legs noted as young child; difficulty walking up stairs noted at age 13-14; muscle weakness and atrophy of the biceps noted at age 22; by age 33 there was lordosis, grade III weakness of shoulder girdle, absent bicep jerks and modified Gower's maneuver; by age 37 there were absent bicep and tricep reflexes, normal brachioradialis, decreased patellar and ankle jerk on left but normal on the right, grade II weakness of the biceps and triceps, normal grip and forearm strength, grade II to III weakness of hamstrings with associated weakness of the adductors of the quadriceps, normal strength in the calves, ankles and feet, broadbased and labored gait due to weakness; twin brother (possibly identical) also affected; CPK of 1,718 at age 33; transaminase of 73 at age 33; muscle biopsy showed alteration of a long standing chronic myopathy and could be consistent with Limb-Girdle muscular dystrophy or Beckers muscular dystrophy; electromyogram showed primary myopathic changes; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
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Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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