Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern
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DOI: 10.1007/s10072-020-04453-y
Abstract: Objective Anoctamin 5 ( ANO5 ) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 may present from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. Here we describe the… read more here.
Keywords: muscle biopsies; muscular dystrophy; dystrophy; three different ... See more keywords
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review
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DOI: 10.3390/genes13101736
Abstract: Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5. ANO5 is a 913-amino acid protein of the anoctamin family that functions predominantly… read more here.
Keywords: disorders narrative; phenotype; ano5 muscle; muscle ... See more keywords