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GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy due to integrin alpha-7 deficiency

Congenital muscular dystrophy due to integrin alpha-7 deficiency

Synonyms
Congenital muscular dystrophy with integrin alpha-7 deficiency; MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY; Muscular dystrophy, congenital, due to ITGA7 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. [from SNOMEDCT_US]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , ITGA7
    Summary: integrin subunit alpha 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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