Myopathy with tubular aggregates (Q100772): Difference between revisions
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A miopatia de agregados tubulares é uma entidade nosológica rara, geneticamente heterogênea, caracterizada por agregados tubulares como a principal marca patológica na biópsia muscular. Os agregados tubulares são arranjos regulares de túbulos derivados do retículo sarcoplasmático e também podem ocasionalmente ser encontrados como uma característica associada em outras miopatias hereditárias ou síndromes miastênicas congênitas. A forma pura é geralmente esporádica ou segue um modo de herança autossômico dominante e é clinicamente caracterizada por mialgias, cãibras e rigidez muscular, com ou sem fraqueza com uma distribuição predominantemente proximal. | |||
| description / en | description / en | ||
Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity characterised by tubular aggregates as the main pathological hallmark on muscle biopsy. Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum and can also occasionally be found as an accompanying feature in other hereditary myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows an autosomal dominant mode of inheritance, and is clinically characterised by myalgias, cramps and muscle stiffness, with or without weakness with a predominantly proximal distribution. | |||
Revision as of 17:31, 16 August 2026
Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity characterised by tubular aggregates as the main pathological hallmark on muscle biopsy. Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum and can also occasionally be found as an accompanying feature in other hereditary myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows an autosomal dominant mode of inheritance, and is clinically characterised by myalgias, cramps and muscle stiffness, with or without weakness with a predominantly proximal distribution.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1488729253 |
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| English | Myopathy with tubular aggregates |
Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity characterised by tubular aggregates as the main pathological hallmark on muscle biopsy. Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum and can also occasionally be found as an accompanying feature in other hereditary myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows an autosomal dominant mode of inheritance, and is clinically characterised by myalgias, cramps and muscle stiffness, with or without weakness with a predominantly proximal distribution. |
