TY  - GEN
AU  - Foley,A Reghan
AU  - Hu,Ying
AU  - Zou,Yaqun
AU  - Columbus,Alexandra
AU  - Shoffner,John
AU  - Dunn,Diane M
AU  - Weiss,Robert B
AU  - Bönnemann,Carsten G
TI  - Autosomal recessive inheritance of classic Bethlem myopathy
SN  - 1873-2364
PY  - 2010///0308
KW  - Adult
KW  - Amino Acid Sequence
KW  - Collagen Type VI
KW  - genetics
KW  - Dermis
KW  - metabolism
KW  - Exons
KW  - Fibroblasts
KW  - Genes, Recessive
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Muscular Diseases
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2009.09.010
ER  -