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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.

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Presentation on theme: "Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family  Johanna Palmio, Satu Sandell, Tiina Suominen, Sini Penttilä, Olayinka."— Presentation transcript:

1 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

2 Fig. 1 Pedigree of the family.
Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2011 Elsevier B.V. Terms and Conditions

3 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

4 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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