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Results 1 - 6 of 6 for Myofibrillar myopathy 2
  1. ... Registry: Desmin-related myofibrillar myopathy Genetic Testing Registry: Myofibrillar myopathy 2 Genetic Testing Registry: Myofibrillar myopathy 4 Genetic Testing ...
  2. ... an area of the gene known as exon 2. MYOT gene mutations that cause myofibrillar myopathy change single protein building blocks (amino acids) in ... Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. ... In: Neurology. 2004 Jul 27;63(2):405. Citation on PubMed
  3. ... the skeletal muscles. Researchers have identified at least two mutations in the LDB3 gene that cause dilated cardiomyopathy without the other features of myofibrillar myopathy. These mutations, written as Asp117Asn and Lys136Met, change ...
  4. ... Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub ...
  5. Muscular Dystrophy (National Library of Medicine)  
    What is muscular dystrophy (MD)? Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the ...
  6. ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...