Genotype-phenotype correlations in FSHD
Abstract Background Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901),...
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| Main Authors: | , |
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| Format: | Book |
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BMC,
2019-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |