A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.

Laura Llanso,Gianina Ravenscroft, Cristina Aceituno, Antonio Gutierrez, Jevin Parmar,Pia Gallano,Marta Caballero-avila,Alvaro Carbayo,Ana Vesperinas,Roger Collet, Rosa Blanco,Nigel Laing,Leif Hove-Madsen,Eduard Gallardo,Montse Olive

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY（2025）

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关键词

Darier disease (DD),sarcotubular myopathy,sarcoendoplasmic reticulum (SR),sarcoendoplasmic reticulum Ca2+-ATPase (SERCA),vacuolar myopathy,western blot (WB),whole genome sequencing (WGS)

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