Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Abstract Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, includin...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-10-01T00:00:00Z.
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