Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Q103672): Difference between revisions
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Miopatia congênita caracterizada clinicamente por fraqueza muscular de início precoce e retardo mental. A marca registrada da doença é a presença na amostra de biópsia muscular de mitocôndrias muito aumentadas deslocadas para a periferia das fibras. É causada por mutações no gene que codifica a colina quinase beta, a enzima que catalisa a primeira etapa na biossíntese de novo da fosfatidil colina e da fosfatidiletanolamina. | |||
| description / en | description / en | ||
Congenital myopathy characterised clinically by early onset muscle weakness and mental retardation. The hallmark of the disease is the presence in the muscle biopsy specimen of greatly enlarged mitochondria displaced to the periphery of the fibres. It is caused by mutations in the gene encoding choline kinase beta, the enzyme that catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine. | |||
Revision as of 09:25, 17 August 2026
Congenital myopathy characterised clinically by early onset muscle weakness and mental retardation. The hallmark of the disease is the presence in the muscle biopsy specimen of greatly enlarged mitochondria displaced to the periphery of the fibres. It is caused by mutations in the gene encoding choline kinase beta, the enzyme that catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_515608669 |
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| English | Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect |
Congenital myopathy characterised clinically by early onset muscle weakness and mental retardation. The hallmark of the disease is the presence in the muscle biopsy specimen of greatly enlarged mitochondria displaced to the periphery of the fibres. It is caused by mutations in the gene encoding choline kinase beta, the enzyme that catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine. |
