Key result
Screening identifies 7 novel GNE mutations in Italian families with hereditary inclusion-body myopathy.
Why the study?
The spectrum of GNE mutations associated with autosomal recessive hereditary inclusion-body myopathy (AR HIBM) in Italian families was not fully characterized.
Population
Patients from five unrelated Italian families with clinical and pathologic features indicative of AR HIBM
Design
Observational case series
Authors
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Expands GNE mutation spectrum in AR HIBM; hypothesis-generating for diagnostics pending functional validation.
Observational
Identifies seven novel GNE mutations in Italian families with AR HIBM, expanding the known genetic spectrum of the disease.
Broccolini et al. (2004) conducted an observational in Autosomal recessive hereditary inclusion-body myopathy (AR HIBM). GNE mutations was evaluated on Identification of novel GNE mutations. Seven novel GNE mutations, including missense, deletion, and insertion mutations, were identified in patients from five unrelated Italian families with autosomal recessive hereditary inclusion-body myopathy.
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