MYOFIBRILLAR AND DISTAL MYOPATHIES

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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.

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