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SCIARRETTA , Lucia

Last name: SCIARRETTA

First name: Lucia

2017 (v1)

Publication

Metadata-only

Mutations in GMPPB Presenting with Pseudometabolic Myopathy

Panicucci, Chiara Fiorillo, Chiara Moro, Francesca

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype...

Uploaded on: April 14, 2023