Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples
dbGaP |
| 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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Family Member
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1
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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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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Remarks |
Clinically affected with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; same donor as GM05081 Fibroblast; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
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