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- W3200144060 abstract "It is well known that skeletal dysplasia may present as proximal weakness and gait disturbances simulating a primary myopathy. Muscle hypotrophy, easy fatigability, and waddling gait have been reported in patients with progressive diaphyseal dysplasia. Incapacity to run, waddling gait, progressive difficulties hopping, jumping, and climbing stairs have been reported in multiple epiphyseal dysplasia. Nevertheless, the muscle structure in patients with skeletal dysplasia is largely unknown. We report a 10-year-old Caucasian girl that was admitted with difficulties raising from the ground and playing with her peers, since she was 8-year-old. She presented slight lower limb weakness, genu valgum, myopathic motor unit action potentials, and skeletal dysplasia with predominant epiphyseal involvement. During epiphysiodesis, for orthopedic deformity correction, a small vastus medialis muscle sample was obtained for histochemical and ultrastructural studies. Electron microscopy revealed bent and parabolic-curved disorganized collagen fibrils, collagen fibrils with variation in shape and diameter, and small collagen fibrils with a mean diameter of 49 nanometers (range 40-64 nm and standard deviation of 4.8nm) (reference mean diameter of 55-60nm). Next Generation Sequencing studies for 191 genes implicated in skeletal dysplasias detected the c.1488+5G>A variant in the COL11A1 gene that has not been described (in silico studies considered it as possibly deleterious). Later studies will be necessary to investigate if COL11A1 gene may cause both skeletal dysplasia and muscle collagen structural abnormalities or if all muscle abnormalities are exclusively secondary to the primary skeletal abnormality." @default.
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- W3200144060 date "2021-10-01" @default.
- W3200144060 modified "2023-09-26" @default.
- W3200144060 title "COLLAGEN RELATED MUSCLE DISEASES" @default.
- W3200144060 doi "https://doi.org/10.1016/j.nmd.2021.07.086" @default.
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