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Severe CMD with Novel Mutation in Lamin A/C Gene
2010
Pediatric Neurology Briefs
Preserved Fulltext
report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation. Muscle weakness and wasting affected the axial muscles, proximal upper and distal lower extremities, with rapid development of joint contractures and spine rigidity. Serum CK was moderately elevated. Muscle biopsy showed a dystrophic pattern with normal immunochemical studies, excluding classic forms of CMD. (Prigogine C, Richard P, Van den
doi:10.15844/pedneurbriefs-24-11-9
fatcat:2pmoaec7yrhpdhib7b7zvwu2yy