Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential vanilloid 4 (TRPV4) gene. It is characterized by scapuloperoneal weakness and congenital contractures. Herein, we present two Polish SPSMA families harboring the same p.Arg269His mutation in TRPV4. In the first, the mutation was identified by direct Sanger sequencing of TRPV4 in the proband and then confirmed in other affected family members. For the second proband, clinical exome sequencing (TruSight One, Illumina) revealed the presence of the same de novo mutation.

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