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- W3146037508 abstract "Early signs of skeletal muscle involvement may alert clinicians in identifying mutations in genes that might cause serious involvement of either cardiac or skeletal muscles. Typical examples of such genes are LMNA, DMD and MYH7. Mutations in MYH7 may cause several different types of myopathy including cardiomyopathy and Laing early-onset distal myopathy. However, the phenotype even within the same family may differ. A 14 year old girl had experienced episodes of tachycardia. Her parents had registered reduced physical endurance over several months and that she could become cyanotic on her lips. She was diagnosed with a severe dilated cardiomyopathy. At the time of diagnosis, it was difficult to distinguish between symptoms related to her cardiomyopathy and possible skeletal muscle involvement. Skeletal muscle biopsy revealed ``fiber type disproportion'' and 6 years after her diagnosis of cardiomyopathy she has clear involvement especially of axial muscles. Her mother had also previously been diagnosed with cardiomyopathy during a pregnancy but this had almost subsided on medical treatment. The mother had always been clumsy walking and had experienced increased symptoms from skeletal muscles. At the age of 51 years she also has prominent axial weakness in addition to typical features of Laing distal myopathy. Genetic testing revealed a novel mutation in MYH7 in both mother and daughter that probably is the cause of this dominant condition. This mutation has also been found in a younger daughter – so far with no cardiac symptoms. We describe a novel mutation in the MYH7 gene that has given rise to severe cardiomyopathy in a young girl. Earlier diagnosis of her mother`s muscle disease might have led to a more favorable prognosis of this girls serious cardiac disorder." @default.
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- W3146037508 date "2018-10-01" @default.
- W3146037508 modified "2023-10-03" @default.
- W3146037508 title "MYOFIBRILLAR AND DISTAL MYOPATHIES" @default.
- W3146037508 doi "https://doi.org/10.1016/j.nmd.2018.06.297" @default.
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