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. Author manuscript; available in PMC: 2021 Jul 1.
Published in final edited form as: Neuromuscul Disord. 2020 May 23;30(7):572–575. doi: 10.1016/j.nmd.2020.05.005

Figure 1.

Figure 1.

Pedigree of the nuclear family with 2 unaffected parents and 3 unaffected siblings all heterozygous for either the F83L or the L182P mutations. The proband (arrow) is the only individual harboring both variants and manifesting disease.