TY  - GEN
AU  - D'Amico,A
AU  - Tessa,A
AU  - Bruno,C
AU  - Petrini,S
AU  - Biancheri,R
AU  - Pane,M
AU  - Pedemonte,M
AU  - Ricci,E
AU  - Falace,A
AU  - Rossi,A
AU  - Mercuri,E
AU  - Santorelli,F M
AU  - Bertini,E
TI  - Expanding the clinical spectrum of POMT1 phenotype
SN  - 1526-632X
PY  - 2006///0628
KW  - Adolescent
KW  - Age of Onset
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Contracture
KW  - genetics
KW  - Disease Progression
KW  - Female
KW  - Glycosylation
KW  - Humans
KW  - Hypertrophy
KW  - Infant
KW  - Intellectual Disability
KW  - Leg
KW  - pathology
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mannosyltransferases
KW  - deficiency
KW  - Microcephaly
KW  - Muscular Dystrophies
KW  - Mutation, Missense
KW  - Phenotype
KW  - Point Mutation
KW  - Protein Processing, Post-Translational
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000216145.66476.36
ER  -