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Clinical and genetic features of anoctaminopathy in Saudi Arabia

Saeed Bohlega, Dorothy M. Monies, Ahmad A. Abulaban, Hatem N. Murad, Hindi N. Alhindi and Brian F. Meyer
Neurosciences Journal April 2015, 20 (2) 173-177; DOI: https://doi.org/10.17712/nsj.2015.2.20140547

Article Figures & Data

Figures

  • Figure 1
    Figure 1

    First patient A) showing prominent quadriceps and calf muscles asymmetrical atrophy (arrow head) and, B) clear knee hyperextension.

  • Figure 2
    Figure 2

    Second patient A) noted asymmetrical atrophy in the leg medial quadriceps and calf muscles. B) An MRI at the mid thigh region noted posterior and lateral muscles group atrophy and fatty infiltration. C) An MRI at mid leg region noted the mild asymmetrical fatty infiltration.

  • Figure 3
    Figure 3

    The DNA elecrophoregram with missense c.169C >T mutation, (p.R58W) of patient one.

  • Figure 4
    Figure 4

    Genetic findings in patient 2 showing A) Copy number analysis using Chromosome Analysis Suite in patient 2 deletion containing exons: 13-17 of ANO5. B) Multiplex PCR including ANO5 (exons: 13,14,15,16,17) and ATL1 (Ex.6) as a internal control in patient one and normal control. ANO5 - anoctamin 5, PCR - polymerase chain reaction

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