A new TNNT1 mutation in a non Amish patient with original muscle pathology findings


We report the case of a 7 yo French-Canadian girl with rigid spine syndrome. She was born with severe arthrogryposis that evolved in infancy with rigid spine syndrome. Her muscle biopsy showed multiminicore. She also presented mutilple episodes of sudden stiffness usually after infection or orthopaedic surgery triggering episodes of rhabdomyolysis. When used Dantrolene, she was able to be partially relieved from these episodes. Genetic testing was negative SEPN1, TTN, RYR1. She was found with a homozygous new mutation in TNNT1 gene.


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