Key result
Heterozygous ANO5 mutations in five Polish patients with limb-girdle muscular dystrophy were associated with variable clinical phenotypes and predicted to cause substantial changes in ANO5 conformation.
Population
Five patients with skeletal muscle weakness and heterozygous ANO5 mutations
Authors
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Hypothesis-generating for heterozygous ANO5 variants in myopathy; leaves open inheritance and causality for validation studies.
Observational (n=5)
No
Identification of novel ANO5 mutations broadens the genetic spectrum of LGMD myopathies and highlights their structural impact on the protein.
Jarmuła et al. (2019) conducted an observational in Limb-girdle muscular dystrophy (LGMD2L) (n=5). ANO5 mutations was evaluated. Heterozygous ANO5 mutations in five Polish patients with limb-girdle muscular dystrophy were associated with variable clinical phenotypes and predicted to cause substantial changes in ANO5 conformation.
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