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. 2023 Sep;270(9):4538-4543.
doi: 10.1007/s00415-023-11729-8. Epub 2023 May 5.

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients

Lorenzo Maggi  1 , Sara Gibertini  1 , Eliana Iannibelli  1 , Annamaria Gallone  1 , Silvia Bonanno  1 , Daniele Cazzato  2 , Simonetta Gerevini  3 , Marco Moscatelli  4   5 , Flavia Blasevich  1 , Giorgia Riolo  1 , Renato Mantegazza  1 , Alessandra Ruggieri  6
Affiliations

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients

Lorenzo Maggi et al. J Neurol. 2023 Sep.
No abstract available

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any conflict of interest.

Figures

Fig. 1
Fig. 1
A Family pedigree. B Percussion myotonia at thenar eminence level. C Marked scapular muscle involvement with arm abduction weakness without scapular winging
Fig. 2
Fig. 2
A Heat map. Patients and muscles are ordered according to the degree of fat replacement. We used the modified Mercuri score, with higher scores rendered with darker red. Age and years of symptoms at imaging are indicated B Thighs and calves section on Axial t1w images from three patients with increasing degree of fat replacement from left to right. SM semimembranosus, ST semitendinosus, BF long long head of the biceps femoris, BF short short head of the biceps femoris, VI vastus intermedius, VL vastus lateralis, RF rectus femoris, VM vastus medialis, Sa sartorius, G gracilis, AM adductor magnus, AL adductor longus, TA tibialis anterior, PL peroneus longus, TP tibialis posterior, So soleus, MG medial head of gastrocnemius, LG lateral head of gastrocnemius
See this image and copyright information in PMC

References

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