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. 2016 Jun;87(6):680-1.
doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23.

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

S Figueroa-Bonaparte  1 , J Hudson  2 , R Barresi  3 , T Polvikoski  4 , T Williams  5 , A Töpf  2 , E Harris  6 , D Hilton-Jones  7 , R Petty  8 , T A Willis  9 , C Longman  10 , C F Dougan  11 , M J Parton  12 , M G Hanna  13 , R Quinlivan  12 , M E Farrugia  8 , M Guglieri  2 , K Bushby  2 , V Straub  2 , H Lochmüller  2 , T Evangelista  2
Affiliations

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

S Figueroa-Bonaparte et al. J Neurol Neurosurg Psychiatry. 2016 Jun.
No abstract available

Keywords: CLINICAL NEUROLOGY; DEMENTIA; MOLECULAR BIOLOGY; MOTOR NEURON DISEASE; NEUROMUSCULAR.

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Figures

Figure 1
Figure 1
Patient 6 illustrates a pseudo-FSHD pattern. Note the scapular involvement (A) and pronounced scapular winging (B). Patient 21: note the wasting of the forearm and thenar eminence (C). Muscle MRI of pelvic girdle (D), thigh (E) and lower leg (F), showing mild fatty infiltration of Gluteus, more pronounced fatty infiltration of vastus lateralis, vastus medialis, adductor magnus and sartorius.
See this image and copyright information in PMC

References

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    1. Mehta SG, Khare M, Ramani R, et al. . Genotype-phenotype studies of VCP associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet 2013;83:422–31. 10.1111/cge.12000 - DOI - PMC - PubMed
    1. Miller TD, Jackson AP, Barresi R, et al. . Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. J Neurol Neurosurg Psychiatry 2009;80:583–4. 10.1136/jnnp.2008.148676 - DOI - PubMed

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