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- W1969726049 abstract "Congenital muscular dystrophy (CMD) is comprised of several heterogeneous diseases. Twelve genes have been identified recently, encoding most often extracellular matrix proteins (laminin α2, collagen VI and integrin α7) or putative or demonstrated glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, LARGE). Mutations in SEPN1, which encodes selenoprotein N, an endoplasmic reticulum protein, are responsible for a rare form of CMD with rigid spine (RSMD1). RSMD1 has allelic variants, the most severe form of classic multiminicore disease and Mallory-body like desmin myopathy; they are at the origin of a new entity called selenoprotein-related myopathy. We described a boy from consanguineous parents with RSMD1; both parents and the two other siblings were healthy. His motor development was normal and he acquired a normal walking at 17 months of age. The child was of extreme thinness and he was hospitalized at the age of 2 years for an assessment of a celiac disease. At 4-years-old, the patient presented a difficulty, to run and jump; on the other hand, his schooling was satisfactory. The evolution was stationary. Physical examination, at 8 years of age, objectified myopathic face, hypoplasia of the lower facial part, large ears of low establishment and ogival palate; mild hypotonia; marked muscle bulk reduction; predominant axial muscle weakness; mild ankle contractures, rigidity of spine, stiffness of rib cage and small weight and small tall. He had no scoliosis. CK level was normal; vital capacity was reduced (38% of predicted value at 11 years); ID and cerebral MRI were normal. Muscle biopsy findings were consistent with merosin positive CMD. Analysis of the SEPN1 gene allowed the identification of a homozygous G to A nucleotide change (c.G872A) corresponding to either a missense mutation p.Arg291Gln in the selenoprotein N or a variation leading to an aberrant splicing that can be analysed at mRNA levels." @default.
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- W1969726049 date "2007-10-01" @default.
- W1969726049 modified "2023-09-26" @default.
- W1969726049 title "C.P.2.10 A patient with RSMD1 associated with the particular SEPN1 c.G872A mutation" @default.
- W1969726049 doi "https://doi.org/10.1016/j.nmd.2007.06.286" @default.
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