Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
ISCN
|
46,X,t(X;21)(Xqter>Xp21::21p12>21pter; 21qter>21p12::Xp21>Xpter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21p12 t(X;21)21p12 |
|
Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;21)Xp21 |
| Remarks |
Clinically affected female; X/autosome chromosome translocation; normal X chromosome replicates early in 6% of cells; negative family history; diagnosed at age 8; frequent falls and difficulty walking stairs at age 2; calf hypertrophy since age 5; waddling gait; muscle weakness in upper and lower extremities; neck weakness; positive Gower's maneuver; absent reflexes; bilateral posterior leg muscle contractures; less severe than classical DMD at age 20 and still ambulatory; EKG abnormal showing a marked anterior shift of QRS forces; EMG characteristic of myopathic disease; muscle biopsy showed marked variation in fiber size, focal areas of necrotic fibers undergoing phagocytosis, and many rounded fibers; elevated lactate dehydrogenase and aldolases; elevated CPK of 2,110; no dystrophin gene deletion or duplication detectable by PCR. |
| Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG, Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science237:1620-4 1987 |
| PubMed ID: 3629260 |
| |
| Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD, Worton RG, Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet67:115-9 1984 |
| PubMed ID: 6745920 |
| |
| Worton RG, Duff C, Sylvester JE, Schmickel RD, Willard HF, Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science224:1447-9 1984 |
| PubMed ID: 6729462 |
| dbSNP |
dbSNP ID: 11326 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
| |
BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
| |
CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
| |
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
|
|