TY  - GEN
AU  - Tachi,N
AU  - Ohya,K
AU  - Chiba,S
AU  - Matsuo,M
AU  - Patria,S Y
AU  - Matsumura,K
TI  - Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin
SN  - 0028-3878
PY  - 1997///0917
KW  - Base Sequence
KW  - Brain
KW  - pathology
KW  - Calcium-Binding Proteins
KW  - Cytoskeletal Proteins
KW  - deficiency
KW  - Dystroglycans
KW  - Dystrophin
KW  - genetics
KW  - Dystrophin-Associated Proteins
KW  - Female
KW  - Histocytochemistry
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant
KW  - Laminin
KW  - Magnetic Resonance Imaging
KW  - Membrane Glycoproteins
KW  - Membrane Proteins
KW  - Muscle Proteins
KW  - Muscular Dystrophies
KW  - congenital
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
KW  - metabolism
KW  - Transcription, Genetic
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1212/wnl.49.2.579
ER  -