Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk
OBJECTIVES: Heterozygous missense variants in MYBPC1 have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer. METHODS: We report 3 new patients from 2 independent families with congenital myopathy with tremor...
June 2024: Neurology. Clinical Practice