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• W2500952169 abstract "Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy." @default.
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• W2500952169 date "2016-10-01" @default.
• W2500952169 modified "2023-10-10" @default.
• W2500952169 title "Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)" @default.
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• W2500952169 doi "https://doi.org/10.1016/j.nmd.2016.07.011" @default.
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