Publications

We describe a male patient in his early thirties exhibiting muscle weakness since childhood, which progressed slowly over time. Clinical examination revealed proximal muscle weakness and contractures in hip flexor, hip adductor and gastrosoleus muscles. Magnetic resonance imaging of the lower limbs revealed a specific pattern with peripheral fat infiltration. Genetic analysis through whole exome sequencing identified a heterozygous mutation in the exon 10 (COL6A1) and exon 7 (SPLTC2), linked to Bethlem myopathy. He underwent corrective surgery for hip and ankle deformities, followed by intensive rehabilitation. It resulted in improved mobility, gait and functional status, demonstrating the efficacy of surgical rehabilitation in enhancing his quality of life.