Key result
GNE gene mutations link distal myopathy with rimmed vacuoles to hereditary inclusion body myopathy.
Why the study?
Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) share clinical features and locus, but their allelic relationship was uncertain.
Population
34 patients with distal myopathy with rimmed vacuoles
Comparison
GNE gene sequencing and epimerase activity measurement
Design
Observational genetic sequencing and enzymatic activity study
Authors
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Unifies DMRV and HIBM under GNE; leaves open whether genetic testing alters management in rimmed-vacuole myopathies.
Observational (n=34)
DMRV is allelic to HIBM, caused by loss-of-function mutations in the GNE gene.
Nishino et al. (2002) conducted an observational in Distal myopathy with rimmed vacuoles (DMRV) (n=34). GNE gene mutations was evaluated on Presence of GNE gene mutations and epimerase activity. Homozygous or compound-heterozygous mutations in the GNE gene were identified in 27 unrelated patients with distal myopathy with rimmed vacuoles, demonstrating it is allelic to hereditary inclusion body myopathy.
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