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myofibrillar myopathy 2 | RareConnect | RareConnect.io

/autosomal dominant distal myopathy

/myofibrillar myopathy 2

myofibrillar myopathy 2

Rare Disease

MONDO:0012130

Also Known As

CRYAB autosomal dominant distal myopathyalpha-B crystallinopathyautosomal dominant distal myopathy caused by mutation in CRYABlate-onset distal crystallinopathymyofibrillar myopathy type 2myopathy, myofibrillar, type 2MFM2alpha-B crystallin-related late-onset distal myopathymyopathy, desmin-related, associated with mutation in the Cryab Genemyopathy, myofibrillar, 2myopathy, myofibrillar, alpha-B crystallin-relatedmyopathy, myofibrillar, with or without cataract and/or cardiomyopathy

Definition

Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:608810 ↗

Orphanet

Orphanet:399058 ↗

GARD

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