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• W2018225997 abstract "We report an 8-year-old girl with congenital onset of Emery-Dreifuss muscular dystrophy (EDMD) with a novel LMNA gene mutation. The patient is the 2nd child born to non-consanguineous parents after a full-term uneventful pregnancy with normal intra-uterine growth. Mild ankle and knee contractures were present at birth. Her hypotonia did not come to medical attention until 4 months of age when persistent head lag was noted. Her head control worsened between 3 and 6 months of age. CK levels were 1050 and 1430. First neurologic evaluation at 8 months of age revealed generalized hypotonia and weakness with diminished reflexes. Genetic testing for SMA was normal. Muscle biopsy at 9 months showed only mild disparity in the size and shape of individual myofibers, normal immunohistochemistry stains and normal immunostaining for dystrophin, α-sarcoglycan and merosin. EMG at 2 years was essentially normal in distal lower limb but showed a lack of motor unit potentials without acute or chronic denervation signs in proximal upper extremity, paraspinal muscles and tibialis anterior. Brain MRI was normal. At 7 years of age the patient presented to our center for a repeat diagnostic evaluation. She had overall wasted appearance with almost no subcutaneous fat, in particular around her neck. There was no antigravity strength in the neck; no to minimal antigravity strength in proximal upper extremities; and barely present antigravity strength in proximal lower extremities. Multiple flexion contractures were present, including fingers, wrists, hips, knees and ankles. Spine showed mild scoliosis with rigidity. She has minimal facial weakness. Her cognitive skills were age appropriate. Her echocardiogram and Halter monitor studies have been normal. LMNA gene sequencing revealed R249W missense mutation that was not found in either of her parents. While R249W is a novel mutation, R249Q has been previously reported in multiple affected individuals with more classic EDMD. Mutations in the LMNA gene are known to cause a very broad phenotypic spectrum leading to nine distinct conditions. Congenital onset of EDMD is rare and has been reportedly only a few times. Given the lack of specific findings on muscle biopsy along with normal immunostaining results, this report further supports the need to consider LMNA gene mutations in merosin positive congenital muscular dystrophy cases with normal cognitive development." @default.
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• W2018225997 date "2006-10-01" @default.
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• W2018225997 title "G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W" @default.
• W2018225997 doi "https://doi.org/10.1016/j.nmd.2006.05.109" @default.
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