Abstract:Lamin A (<i>LMNA</i>)-related congenital muscular dystrophy usually presents with hypotonia and severe axial muscle weakness in early infancy. We report a patient who initially presented with torticollis but was finally diagnosed with <i>LMNA</i>-related congenital muscular dystrophy. A 7-month-old infant presented to the outpatient clinic with a chief complaint of torticollis. During a thorough physical examination, axial muscle weakness and gross motor delay were noted, and she was ad… Show more
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