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Article

Lack of scientific rationale for use of valproic acid for retinitis pigmentosa

3 Dec 2010

Abstract excerpt

Background Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Methods Using next-generation sequencing, we identified three patients with pathogenic variants in the Troponin T type 1 (TNNT1) gene, coding for the troponin T (TNT) skeletal muscle isoform. Results The clinical phenotype was similar in all patients, associating...

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PMID: 21131379
DOI: 10.1136/bjo.2010.198176

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