NTCC® NA04569 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04569

Name：NTCC® NA04569 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04569
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 38 YR
Gender性别: 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其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
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Mutation description突变描述:
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Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net