hereditary inclusion body myopathy
- hereditary inclusion body myopathy
- any of a group of distal myopathies characterized by inclusion bodies with rimmed vacuoles. An autosomal recessive type is due to mutation in the GNE gene (locus: 9p13.3), which encodes a key enzyme in sialic acid biosynthesis. It has onset between the ages of 20 and 40 and affects primarily the lower limbs but spares the quadriceps muscles until late in the course. An autosomal dominant type is due to mutation in the MYHC2A gene (locus: 17p13.1), which encodes a myosin heavy chain. It affects the quadriceps muscles first. A rare third type, allelic with the autosomal recessive type, is Nonaka distal myopathy.
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2011.
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