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Published bySakari Karvonen Modified over 6 years ago
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Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family
Johanna Palmio, Satu Sandell, Tiina Suominen, Sini Penttilä, Olayinka Raheem, Peter Hackman, Sanna Huovinen, Hannu Haapasalo, Bjarne Udd Neuromuscular Disorders Volume 21, Issue 8, Pages (August 2011) DOI: /j.nmd Copyright © 2011 Elsevier B.V. Terms and Conditions
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Fig. 1 Pedigree of the family.
Neuromuscular Disorders , DOI: ( /j.nmd ) Copyright © 2011 Elsevier B.V. Terms and Conditions
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Fig. 2 Patient III-3. (A) Atrophy of lower leg anterior compartment muscles with drop foot. (B) Fatty degeneration of tibialis anterior, extensor hallucis and digitorum longus muscles. Neuromuscular Disorders , DOI: ( /j.nmd ) Copyright © 2011 Elsevier B.V. Terms and Conditions
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Fig. 3 Tibialis anterior muscle biopsy. (A) HE stain section showing one fiber with rimmed vacuolar change and a few ring-fibers. (B) NADH stain revealing several atrophic multilobulated ring-fibers. Neuromuscular Disorders , DOI: ( /j.nmd ) Copyright © 2011 Elsevier B.V. Terms and Conditions
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