Myopathy, Myofibrillar, 3 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases
Aliases & Descriptions for Myopathy, Myofibrillar, 3:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases, Cardiovascular diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.
MalaCards based summary: Myopathy, Myofibrillar, 3, also known as myotilinopathy, is related to myopathy, myofibrillar, 1 and myofibrillar myopathy, and has symptoms including polyneuropathy, areflexia and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle.
OMIM:51 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic... (609200) more...
Human phenotypes related to Myopathy, Myofibrillar, 3:63 (show all 13)
MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:35
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:69
Clinvar genetic disease variations for Myopathy, Myofibrillar, 3:5
Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.
Cellular components related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet