Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
about
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
P2860
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
description
2014 nî lūn-bûn
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name
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@en
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@nl
type
label
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@en
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@nl
prefLabel
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@en
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
@nl
P2093
P2860
P356
P1433
P1476
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype
@en
P2093
Padma Sivadorai
Phillipa Lamont
Reimar C Junckerstorff
Richard J Allcock
Vanessa Atkinson
P2860
P304
P356
10.1002/MUS.24446
P577
2014-11-22T00:00:00Z