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. 2018 Mar 19;4(2):e226.
doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Hadil Alrohaif  1 , Ana Töpf  1 , Teresinha Evangelista  1 , Monkol Lek  1 , Daniel McArthur  1 , Hanns Lochmüller  1
Affiliations

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Hadil Alrohaif et al. Neurol Genet. .
No abstract available

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Figures

Figure 1
Figure 1. Clinical features and muscle MRI in MYMK-related Carey-Fineman-Ziter syndrome
(A.a and A.b) Front and profile facial photographs demonstrating lagophthalmos (A.a, patient attempting lid closure), muscle hypoplasia, retrognathia, and broad nasal tip. (A.c and A.d) Wasting of intrinsic hand muscles and contracture deformities of the right little finger and the toes. (A.e, A.f) Scoliosis (A.e) and generalized muscle atrophy with pectoralis muscle hypoplasia (A.f). (B) T2-weighted MRIs of the thighs (B.a) showing severe fatty replacement of hamstrings, thigh adductors, and sartorius muscles, with relative sparing of the gracilis and quadriceps muscles bilaterally, and of the calves (B.b) showing asymmetric involvement with more marked fatty replacement in muscle of the right leg. Gastrocnemius and soleus muscles are severely affected, and the tibialis anterior on the right is relatively spared.
Figure 2
Figure 2. Needle biopsy of the left vastus lateralis
Patient images and control images. H&E stain demonstrates fiber-size variation (A and B; H&E ×100) and occasional internal nuclei (C and D; H&E ×200, arrows). Mild moth-eaten changes seen on nicotinamide adenine dinucleotide (NADH) stain, indicating uneven mitochondrial enzyme activity within the sarcoplasm (E and F; NADH ×200).
See this image and copyright information in PMC

References

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