NA05263
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples
dbGaP |
| Class |
Congenital Muscle Diseases |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
arr(1-22)x2,(XY)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
Q2632Sfs6; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
7893delC |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed at age 3; calf hypertrophy; weakness; wheelchair bound sometime before age 10; waddling gait noted at age 3; by age 5 there was toe walking, positive Gower's maneuver, tight heelcords, lumbar lordosis, contractures of the ankles, weakness of the shoulders, wrists and some weakness in grip, muscle testing of quadriceps, neck flexors and hip flexors graded as good; by age 10 there was scoliosis, ability to raise hands above head without difficulty, marked weakness of legs; son of GM05264; CPK of 17,290 and transaminase of 377 at age 5; electromyogram showed changes consistent with progressive muscular dystrophy; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a 1 bp deletion at nucleotide 7893 of the DMD gene (7893delC) resulting in a frameshift (Q2632Sfs6) |
| 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 |
| |
| 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 |
| dbSNP |
dbSNP ID: 23082 |
| 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 |
|
|