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. 2019 Apr;90(4):490-493.
doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

Katherine Johnson #  1 , Willem De Ridder #  2   3   4 , Ana Töpf  1 , Marta Bertoli  1 , Lauren Phillips  1 , Peter De Jonghe  2   3   4 , Jonathan Baets  2   3   4 , Tine Deconinck  2   3 , Vidosava Rakocevic Stojanovic  5 , Stojan Perić  5 , Hacer Durmus  6 , Shirin Jamal-Omidi  7 , Shahriar Nafissi  7 , Tiziana Mongini  8 , Anna Łusakowska  9 , Mark Busby  10 , James Miller  11 , Fiona Norwood  12 , Judith Hudson  13 , Rita Barresi  1   14 , Monkol Lek  15   16 , Daniel G MacArthur  15   16 , Volker Straub  17
Affiliations

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

Katherine Johnson et al. J Neurol Neurosurg Psychiatry. 2019 Apr.
No abstract available

Keywords: muscle disease; muscular dystrophy; myopathy; neuromuscular.

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Conflict of interest statement

Competing interests: VS is or has been a principal investigator for trials sponsored by Sanofi Genzyme, GSK, Prosensa/Biomarin, Ionis Pharmaceuticals and Sarepta. He has received speaker honoraria from Sanofi Genzyme. He is or has been on advisory boards for Acceleron Pharma, Audentes Therapeutics, Biomarin, Bristol-Myer Squibb, Italfarmaco S.p.A., Nicox, Pfizer, Sanofi Genzyme, Santhera, Sarepta Therapeutics, Summit Therapeutics, Tivorsan and TrophyNOD.

Figures

Figure 1
Figure 1
T1-weighted axial MRI of the lower limbs of five patients identified with pathogenic TRIM32 variants. MRI images at mid-thigh level on the left and mid-calf level on the right for: (A) patient 14 at approximately 14 years of disease duration; (B) patient 15 at 18 years of disease duration; (C) patient 27 at 8 years of disease duration; (D) patient 28 at 28 years of disease duration; (E) patient 37 at 5 years disease duration. (A–C and E) MRI images at thigh level, with slight differences in the exact level of acquisition of the image, revealed a preferential involvement of posterior compartment muscles. (D) End-stage involvement of all thigh muscles was observed for patient 28. (A–E) MRI images at calf level revealed a similar pattern for all patients, with predominant involvement of the posterior compartment. White arrows indicate relatively spared muscles. FDL, flexor digitorum longus; FHL, flexor hallucis longus; TP, tibialis posterior.
See this image and copyright information in PMC

References

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