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ENMyopathy, Myofibrillar, 2 (MFM2)
Alias:
Alpha-B Crystallinopathy
Myofibrillar Myopathy 2
Mfm2
Myopathy, Myofibrillar, with or Without Cataract and/or Cardiomyopathy
Myopathy, Desmin-Related, Associated with Mutation in the Cryab Gene
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene
Myopathy, Cardioskeletal, Desmin-Related, with Cataract
Alpha-B Crystallin-Related Late-Onset Distal Myopathy
Myopathy Cardioskeletal Desmin-Related with Cataract
Myopathy, Myofibrillar, Alpha-B Crystallin-Related
Myofibrillar Myopathy Alpha-B Crystallin-Related
Alpha-B Crystallin-Related Late-Onset Myopathy
Alpha-B Crystallinopathy with Cataract
Desmin-Related Myopathy with Cataract
Late-Onset Distal Crystallinopathy
Mfm Alpha-B Crystallin-Related
Myopathy, Myofibrillar, Type 2
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Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to muscular dystrophy, limb-girdle, type 1h and distal hereditary motor neuronopathy type 2c. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are Cellular response to heat stress and HSF1-dependent transactivation. Affiliated tissues include skeletal muscle and eye, and related phenotypes are dysphonia and dysphagia
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