TY  - GEN
AU  - Baumann,Matthias
AU  - Steichen-Gersdorf,Elisabeth
AU  - Krabichler,Birgit
AU  - Petersen,Britt-Sabina
AU  - Weber,Ulrike
AU  - Schmidt,Wolfgang M
AU  - Zschocke,Johannes
AU  - Müller,Thomas
AU  - Bittner,Reginald E
AU  - Janecke,Andreas R
TI  - Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation
SN  - 1476-5438
PY  - 2017///0705
KW  - Arthrogryposis
KW  - diagnosis
KW  - Child
KW  - Codon, Nonsense
KW  - Cytoskeletal Proteins
KW  - Genotype
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Muscle Weakness
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/ejhg.2016.144
ER  -