Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders with Trinucleotide Expansions |
| 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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Family Member
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3
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Relation to Proband
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brother
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected brother of GM16348; exam at age 39 showed patient cannot raise his arms above his head; gradual decrease in walking; occasional falls; patient denies problems with swallowing or choking; reduced endurance; no kyphoscoliosis; scapular winging and upriding; absent biceps, triceps, and knee jerk; waddling gait |
| Jones TI, Himeda CL, Perez DP, Jones PL, Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy Neuromuscular disorders : NMD27:221-238 2016 |
| PubMed ID: 28161093 |
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| Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE, Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis European journal of human genetics : EJHG20:999-1003 2012 |
| PubMed ID: 22378277 |
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