article_metadata: Marco Spinazzi Marco Savarese Franck Letournel Lydia Sagath Florence Manero Agnès Guichet Alexander Hoischen Corinne Metay Julien Gouju Bjarne Udd
article_metadata: 10.1111/ene.70029
article_metadata: Eur J Neurol
article_metadata: 2025 Jan;32(1):e70029.
article_metadata: distal myopathy duplication late‐onset myopathy long‐read sequencing muscle hypertrophy myofibrillar myopathy myotilin
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39757377/
article_metadata: Connectin / genetics Gene Duplication / genetics
article_metadata: Connectin / genetics Gene Duplication / genetics Case Reports Age of Onset Aged Female Humans Male Microfilament Proteins Middle Aged Muscle, Skeletal / diagnostic imaging Muscle, Skeletal / pathology Pedigree Connectin MYOT protein, human Microfilament Proteins
article_metadata: PMC11702382
article_metadata: 39757377
article_metadata: Myotilin gene duplication causing late-onset myotilinopathy
article_metadata: 2025