TY  - GEN
AU  - Mercuri,E
AU  - D'Amico,A
AU  - Tessa,A
AU  - Berardinelli,A
AU  - Pane,M
AU  - Messina,S
AU  - van Reeuwijk,J
AU  - Bertini,E
AU  - Muntoni,F
AU  - Santorelli,F M
TI  - POMT2 mutation in a patient with 'MEB-like' phenotype
SN  - 0960-8966
PY  - 2006///1010
KW  - Amino Acid Sequence
KW  - Child
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hypertrophy
KW  - Intellectual Disability
KW  - genetics
KW  - Magnetic Resonance Imaging
KW  - Mannosyltransferases
KW  - Microcephaly
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - pathology
KW  - Muscular Dystrophies
KW  - congenital
KW  - Phenotype
KW  - Point Mutation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2006.03.016
ER  -