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Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

✍ Scribed by Peyer, Anne-Kathrin; Kinter, Jochen; Hench, Jürgen; Frank, Stephan; Fuhr, Peter; Thomann, Sandra; Fischmann, Arne; Kneifel, Stefan; Camaño, Pilar; Munain, Adolfo López de; Sinnreich, Michael; Renaud, Susanne


Book ID
123086918
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
823 KB
Volume
23
Category
Article
ISSN
0960-8966

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## 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 q