No abstract available
Keywords:
CFTD; TPM2; congenital fiber type disproportion; congenital myopathy; restrictive lung disease; tropomyosin.
MeSH terms
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Female
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Humans
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Middle Aged
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / physiopathology
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Mutation / genetics
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Myopathies, Structural, Congenital / genetics
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Myopathies, Structural, Congenital / pathology*
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Myopathies, Structural, Congenital / physiopathology
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Tropomyosin / genetics
Substances
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TPM2 protein, human
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Tropomyosin