63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy

T Turku,M Soininen,P Hackman,K Pelin,A Roos,M Steehouwer,C Wallgren-Pettersson,W Stenzel,M Savarese,M Johari,C Preuße,A Hoischen,B Udd

doi:10.1016/j.nmd.2024.07.426

63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy

T Turku, M Soininen + Show 11 more

https://doi.org/10.1016/j.nmd.2024.07.426

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Journal: Neuromuscular Disorders

Publication Date: Oct 1, 2024

#Large Family #Late-onset Myopathy #Dominant Myopathy #Variant In Family #Dominant Distal Myopathy #Distal Myopathy #Disease-causing Variant

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63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy