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GTR Home > Conditions/Phenotypes > X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy

Synonyms
Autophagic vacuolar myopathy; Vacuolar myopathy
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015). Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features. [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MEAX, XMEA, VMA21
    Summary: vacuolar ATPase assembly factor VMA21

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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