TY  - CONF
AU  - Dofash, L.
AU  - Monahan, G.
AU  - Servian-Morilla, E.
AU  - Rivas, E.
AU  - Faiz, F.
AU  - Sullivan, P.
AU  - Oates, E.
AU  - Clayton, J.
AU  - Taylor, R.
AU  - Davis, M.
AU  - Beilharz, T.
AU  - Laing, N.
AU  - Cabrera-Serrano, M.
AU  - Ravenscroft, G.
PY  - 2022
DO  - 10.1016/j.nmd.2022.07.015
SN  - 0960-8966
UR  - http://hdl.handle.net/10668/22426
T2  - Neuromuscular disorders
AB  - Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). To date, only protein-altering pathogenic variants in KLHL40 have been implicated in NEM8. Common...
LA  - en
PB  - Pergamon-elsevier science ltd
KW  - RNA Splice Sites
KW  - Quadriceps Muscle
KW  - Blotting, Western
KW  - Hypokinesia
KW  - RNA, Messenger
KW  - Perinatal Death
KW  - Muscle Hypotonia
KW  - Polymorphism, Single Nucleotide
KW  - Exome Sequencing
KW  - Scoliosis
KW  - Contracture
KW  - Wheelchairs
KW  - Walking
TI  - A KLHL40 3 ' UTR splice-altering variant causes milder NEM8
TY  - conference output
VL  - 32
ER  -