Congenital muscular dystrophy with integrin alpha-7 deficiency

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Congenital muscular dystrophy with integrin alpha-7 deficiency

Synonyms: Congenital muscular dystrophy with ITGA7 deficiency

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Clinical Trials

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