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Limb-Girdle Muscular Dystrophy Type 2H

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Abstract

In 1973, Jerusalem et al. [1] described two Hutterite brothers affected with a congenital muscle disorder called sarcotubular myopathy, because of its unique structural features consisting in small vacuoles due to focal dilatation of the sarcotubular reticulum. One form of autosomal recessive LGMD has been identified to recur among the Manitoba Hutterite population in Canada [2], and a new locus for the disease was identified in these families [3]. Hutterites are an Anabaptist sect who migrated from Germany to North America in the 1870s and kept religious and cultural isolation and consanguineous marriages.

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References

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Angelini, C. (2018). Limb-Girdle Muscular Dystrophy Type 2H. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_17

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  • DOI: https://doi.org/10.1007/978-3-319-56454-8_17

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-56453-1

  • Online ISBN: 978-3-319-56454-8

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