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myofibrillar myopathy 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Uniprot Description A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.
Disease Ontology Description A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Mondo Term and Equivalent IDs
MONDO:0012130:  myofibrillar myopathy 2
MESH:C563848: 
Orphanet:399058: 
UMLS:C1837317: