Key result
Five patients with ANO5 mutations exhibited wide clinical variability ranging from isolated hyperCKemia to proximo-distal muscular weakness, expanding the genetic spectrum of ANO5-related myopathies.
Why the study?
Biallelic variants in the ANO5 gene cause various muscular disorders, and the study aimed to describe the clinic, histologic, genetic, and imaging features of ANO5-mutated patients.
Population
5 ANO5-mutated patients from four families (four from France, one from Mexico)
Comparison
Group 1 (normal muscle strength) vs Group 2 (muscular weakness)
Design
Case series
Authors
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Supports ANO5 testing in isolated hyperCKemia; extends phenotypic spectrum but leaves open questions on penetrance.
Case Report (n=5)
Yes
This case series expands the known genetic and phenotypic spectrum of ANO5-related myopathies, highlighting significant clinical variability.
Vázquez et al. (2020) conducted a case report in ANO5-related myopathies (n=5). ANO5 mutations was evaluated on Clinical, histologic, genetic, and imaging features. Five patients with ANO5 mutations exhibited wide clinical variability ranging from isolated hyperCKemia to proximo-distal muscular weakness, expanding the genetic spectrum of ANO5-related myopathies.
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