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Article

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

BMC neurology - 24 Sept 2015

Magri Francesca, Colombo Irene, Del Bo Roberto, Previtali Stefano, Brusa Roberta, Ciscato Patrizia, Scarlato Marina, Ronchi Dario, D'Angelo Maria Grazia, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

BACKGROUND: Limb Girdle Muscular Dystrophy (LGMD), caused by defective α-dystroglycan (α-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes. The frequency of ISPD and GMPPB gene mutations in the LGMD population is unknown. METHODS: We investigated the contributions of ISPD and GMPPB genes in a cohort of 174...

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Identifiers

PMID: 26404900
DOI: 10.1186/s12883-015-0428-8
PMCID: PMC4582941

Genes

GMPPB
FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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