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The term hereditary inclusion-body myopathies (h-IBM) refers to several syndromes with autosomal recessive (AR) or dominant inheritance.1 Although clinical presentation may vary among different forms, they all lead to severe disability and share common findings at muscle biopsy. The most common form of AR h-IBM, originally described in Persian-Jewish (PJ) patients, is characterized by onset in the second to third decade of life with weakness and atrophy of distal lower limb muscles, progressing proximally with relative sparing of the quadriceps.1
AR h-IBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene on chromosome 9p12–13.2 A homozygous T→C mutation at nucleotide position (np) 2186 in the GNE gene, converting methionine to threonine, was found in all PJ patients, whereas patients of other ethnic origins were compound heterozygotes for other mutations.2 GNE mutations have been found in patients with AR Nonaka myopathy, another form of h-IBM.1,3⇓ GNE is a bifunctional enzyme with epimerase and kinase activities, which has a critical role in sialic acid biosynthesis.4
In this current study an Italian family with AR quadriceps-sparing h-IBM, previously shown to be linked to …
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