Description:
MUSCULAR DYSTROPHY, PROGRESSIVE WITH CNS INVOLVEMENT & RECESSIVE INHERITANCE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Relation to Proband
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proband
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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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| Passage Frozen |
3 |
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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 |
Similarly affected brother; microcephalic; mental retard; muscle biopsy revealed a moderately severe myopathy; congenital muscular dystrophy with CNS involvement documented clinically & radiographically; 46,XX in PBL; possible Fukuyama type.
Medical history of the siblings was reported as below (Shanske, Fukuyama's disease in non-Japanese siblings. Am J Hum Genet 41:A83): "Our proband was 3 and 3/12 when first examined. He was the 2977 gm product of a term pregnancy delivered operatively to a 28 year old schizophrenic, ethanol abuser. His parents are unrelated blacks from the American South. His cognitive skills consolidated at the 6 month level. He is a mildly stigmatized, non-ambulatory, short youngster with prognathism, malocclusion, cranial asymmetry, generalized hypotonia and a mild decrease in muscle mass in all 4 extremities. A muscle biopsy, done at age 2, showed myopathic changes consistent with CMD;
an EMS was non-diagnostic but showed acute denervation activity; LDH of 924 U/L and, CPK of 31,600 IU/L and SGOT of 300 U/L; and a CAT scan of the head without contrast revealed a right arachnoid cyst and bifrontal atrophy. His sister was first examined when she was 5 and 1/12. She was the 2438 gm product of a term pregnancy. She was found to be microcephalic, but otherwise unstigmatized, ambulatory, and pervasively developmentally delayed. A muscle biopsy revealed a moderately severe myopathy; LDH of 789 U/L, CPK of 8578 IU/L, and SGOT of 128 U/L. These children have CMD with CNS involvement demonstrated clinically and radiographically."
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| Shanske, Fukuyama's disease in non-Japanese siblings. Am J Hum Genet41:A83 (1987): 1987 |
| PubMed ID: |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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