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Article

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Human mutation - 1 Jun 2004

Broccolini Aldobrando, Ricci Enzo, Cassandrini Denise, Gliubizzi Carla, Bruno Claudio, Tonoli Emmanuel, Silvestri Gabriella, Pescatori Mario, Rodolico Carmelo, Sinicropi Stefano, Servidei Serenella, Zara Federico, Minetti Carlo, Tonali Pietro A, Mirabella Massimiliano

Abstract excerpt

The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in Persian-Jewish families, is characterized by onset in early adult life with weakness and atrophy of distal lower limb muscles, which progress proximally and relatively spare the quadriceps. AR HIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase...

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Identifiers

PMID: 15146476
DOI: 10.1002/humu.9252

Genes

GNE

Variants

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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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