TY  - GEN
AU  - Perrin,Aurélien
AU  - Metay,Corinne
AU  - Villanova,Marcello
AU  - Carlier,Robert-Yves
AU  - Pegoraro,Elena
AU  - Juntas Morales,Raul
AU  - Stojkovic,Tanya
AU  - Richard,Isabelle
AU  - Richard,Pascale
AU  - Romero,Norma B
AU  - Granzier,Henk
AU  - Koenig,Michel
AU  - Malfatti,Edoardo
AU  - Cossée,Mireille
TI  - A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
SN  - 2328-9503
PY  - 2021///0419
KW  - Adolescent
KW  - Child
KW  - Connectin
KW  - genetics
KW  - Deltoid Muscle
KW  - pathology
KW  - Female
KW  - Humans
KW  - Male
KW  - Muscular Diseases
KW  - congenital
KW  - Myosin Heavy Chains
KW  - deficiency
KW  - Pedigree
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/acn3.51031
ER  -