Atypical Chronic Inflammatory Demyelinating Polyneuropathy

J Gordon Millichap
2010 Pediatric Neurology Briefs  
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
more » ... hard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy.
doi:10.15844/pedneurbriefs-24-11-10 fatcat:apgicedxgvbs3bbksy2uhmuarm