NA04601
DNA from Fibroblast
Description:
DYSTROPHIA MYOTONICA 1; DM1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
10 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
|
2
|
|
Relation to Proband
|
daughter
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Clinically affected; delivered at term and weighed 5 pounds 13 ounces; placed on respirator at 5 days of age; hypotonia in infancy; problems with articulation of language; diagnosed at age 4; long, thin face with weakness of the facial musculature; myotonic facies; incomplete eyelid closure; high-arched palate; thin extremitites with relatively reduced muscle bulk; mildly reduced strength in neck flexion and distal upper extremity musculature; myotonia evident with hand grip and after thenar percussion; distal atrophy of arms and legs; affected mother is GM04608; affected sister is GM04602; maternal grandfather is GM06076; myotonia on EMG |
| De Serres-Bérard T, Jauvin D, Puymirat J, Chahine M, Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A) Stem cell research72:103234 2023 |
| PubMed ID: 37871474 |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
| |
DYSTROPHIA MYOTONICA; DM |
| |
DYSTROPHIA MYOTONICA; DMPK |
| |
MYOTONIC DYSTROPHY |
| |
MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
| |
MYOTONIN-PROTEIN KINASE, INCLUDED |
| |
STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
|