TY  - GEN
AU  - Kölbel,Heike
AU  - Abicht,Angela
AU  - Schwartz,Oliver
AU  - Katona,Istvan
AU  - Paulus,Werner
AU  - Neuen-Jacob,Eva
AU  - Weis,Joachim
AU  - Schara,Ulrike
TI  - Characteristic clinical and ultrastructural findings in nesprinopathies
SN  - 1532-2130
PY  - 2019///0508
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Cytoskeletal Proteins
KW  - Female
KW  - Humans
KW  - Male
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Neuromuscular Diseases
KW  - Nuclear Envelope
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Schwann Cells
KW  - Thumb
KW  - abnormalities
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejpn.2018.12.011
ER  -