Distal myopathy and thrombocytopenia due to a novel GNE mutation

Distal myopathies encompass a group of hereditary or less commonly acquired disorders of skeletal muscles with predominant or selective weakness and wasting of the distal muscles. Although their clinical and histopathological heterogeneity often poses a diagnostic challenge, the detailed pattern of distal weakness, certain specific histopathological findings and associated clinical features can help guide the genetic test and eventually achieve the correct diagnosis [1]. We describe a case of childhood-onset refractory thrombocytopenia and early adult-onset distal weakness due to compound known and novel heterozygous mutations in GNE gene that encodes bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

from Journal of the Neurological Sciences https://ift.tt/304iqqf