All individuals with variants in gene MAP3K20

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00301738 14DG0265 PubMed: Maddirevula 2019 - F - China - - - - - ? myopathy, failure to thrive; born following an uneventful pregnancy. Neonatal history was remarkable for poor sucking. Initially, the main concern about her health was regarding her poor weight gain and she was labeled by her physician as failure to thrive when all growth parameters were presumably below the 3rd centile. Later, it became apparent that she had motor delays. She only took independent steps on a flat service at 28m after intensive physical therapy, she was still unable to make intelligible words. Of note, the muscle weakness, while generalized, also involves the neck to the point that she struggles to keep her head straight as it tends to fall forward as if she is unable to support it with her muscles. The pastmedical history is largely negative otherwise and the review of systems did not reveal any salient symptoms such as abnormal movements or seizures. Family history is remarkable for parents being consanguineous and a paternal uncle with unexplained myopathy. CK was never grossly elevated. Muscle biopsy revealed findings suggestive of congenital myopathy. Her brain MRI was was normal. Her thyroid function test was also normal 1 1 Johan den Dunnen
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