Résumé :
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Communication n° 353 We report the results of a study of 39 cases CMD. a) MDC1A (18 cases): 3 patients presented a partial deficiency of laminine ? 2; two of them had mild phenotype and preserving of independent ambulation. b) Ullrich CMD (6 cases): 2 brothers were linked to COLA1 gene and 3 siblings to COLA2 gene. The last case was characterized by a normal secretion of collagen VI in the connective tissue but not in the basal lamina. c) RSMD (2 cases) the case with no link to SEPN1 gene had a mild mental retardation. d) MDC1C (4 cases) 3 children harbouring new FKRP mutations presented mild mental retardation and variable structural soustentororial changes. The forth case had onset in infancy, normal brain imaging and intelligence and a rapid and fatal course. e) Two sisters with Emery-Dreiffus phenotype, normal MRI and intelligence. f) One case with head lag. g) One case with mental retardation and microcephaly. h) One multiplex family with wide clinical spectrum, brain involvement and normal intellect. i) CMD with abnormal neuronal migration (3 cases): 2 cousins FCMD-like and one boy MEB-like had all a depletion of ?-dystroglycane and normal CK level. Key-words: MDC1A, UCMD, RSMD, MDC1C, FKRP, mental retardation, IRM, dystrophynopathy.
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