Hereditary inclusion body myopathy (Q88130): Difference between revisions
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Grupo de transtornos musculares raros com herança autossômica recessiva ou dominante e presença de fibras musculares com vacúolos marginados e agrupamento de túbulo-filamentos citoplasmáticos ou nucleares de 15-21 nm de diâmetro, conforme revelado por biópsia muscular. A forma mais comum de miopatia hereditária por corpúsculo de inclusão é devida a mutações no gene GNE que codifica uma enzima limitadora de taxa na via biossintética do ácido siálico. Isso resulta em sialilação anormal de glicoproteínas que possivelmente leva à degeneração da fibra muscular | |||
| description / en | description / en | ||
Group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibres with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form of hereditary inclusion-body myopathy is due to mutations of the GNE gene that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in abnormal sialylation of glycoproteins that possibly leads to muscle fibre degeneration | |||
Revision as of 14:15, 15 August 2026
Group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibres with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form of hereditary inclusion-body myopathy is due to mutations of the GNE gene that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in abnormal sialylation of glycoproteins that possibly leads to muscle fibre degeneration
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1248099703 |
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| English | Hereditary inclusion body myopathy |
Group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibres with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form of hereditary inclusion-body myopathy is due to mutations of the GNE gene that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in abnormal sialylation of glycoproteins that possibly leads to muscle fibre degeneration |
