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Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy - Journal of Human Genetics

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Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy - Journal of Human Genetics

The TNNT1 gene encoding the slow skeletal muscle TnT has been identified as a causative gene for nemaline myopathy. TNNT1 nemaline myopathy is mainly characterized by neonatal-onset muscle weakness, pectus carinatum and respiratory insufficiency. Herein, we report on a Chinese girl with TNNT1 nemaline myopathy with mild clinical phenotypes without thoracic deformities or decreased respiratory function. Muscle biopsy showed moderate to marked type 1 fiber atrophy and nemaline rods.

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Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy - Journal of Human Genetics

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Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy - Journal of Human Genetics

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