| Autor: |
Deconinck, N., Monnier, N, Commare, Mc, Mezin, P, Michotte, Alex, Lunardi, J |
| Přispěvatelé: |
Anatomy |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Popis: |
Congenital Fibre Type Disproportion (CFTD) is defined by isolated uniform atrophy of type I fibres, at least 12% smaller than type II fibres in absence of structural changes. CFTD is also clinically and genetically heterogeneous. Recessive, dominant and X-linked inheritance patterns have been described. So far mutations in three genes have been shown to cause CFTD, ACTA1 in three sporadic cases with lethal neonatal presentation, SEPN1 in one recessive family and TPM3 in a panel of patients with dominant transmission and variable clinical course. We report herein the identification of a new ACTA1 mutation in two unrelated sporadic cases of neonatal form of CFTD. Both patients presented with a major axial and peripheral hypotonia during the first year of life. There was neither dysmorphy nor ophthalmoplegia but both presented with a myopathic facies, high arched palate. Further clinical course included delayed motor milestones, general amyotrophia, global hyperlaxity, and scoliosis diagnosed between the ages of 2 and 4. For one of the patients swallowing troubles required feeding with nasogastric catheter. Both patients encountered respiratory complications requiring nocturnal mechanical ventilatory assistance. Autonomous walking was acquired at 3 years of age for one and 4 years for the second one. Clinical evaluation at 4 years of age indicated real although slow improvements. Muscle biopsy showed in both patients a typical pattern of congenital myopathy with uniform atrophy of type I fibres, that were significantly smaller than type II fibres and in absence of structural changes. A c.764A>G change leading to the p.Glu251Gly substitution in the mature form of ACTA1 protein was identified in both children. The good correlation between clinical presentation and histological data may suggest that the pathogenic mechanism leading to fibre type disproportion could be specific of this new ACTA1 mutation identified in both children. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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