GM05142
Fibroblast from Skin, Unspecified
Description:
DYSTROPHIA MYOTONICA 1; DM1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Muscular Dystrophies |
Class |
Disorders with Trinucleotide Expansions |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Clinically affected; cramping of distal muscles and myotonic grip noted in 30's; retinal pigment deterioration; macular degenerative changes; hearing loss with use of hearing aid in one ear; syncope episodes at age 68; chronic pulmonary disease including wheezing and shortness of breath; bilateral ptosis; weakness to full closure of lids; nominal weakness to the facial muscles; marked weakness to grip; distal weakness; myotonia evident with grip and to percussion of the thenar eminences; affected son is GM04573; affected grandson is GM04647; affected daughter is GM05281; diagnosis made from EMG evaluation; muscle biopsy confirmed diagnosis |
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 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
20% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|