PMID- 10545044
OWN - NLM
STAT- MEDLINE
DCOM- 19991123
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 6-7
DP  - 1999 Oct
TI  - A novel missense mutation in the glycogen branching enzyme gene in a child with
      myopathy and hepatopathy.
PG  - 403-7
AB  - We have identified a novel missense mutation in the gene for glycogen branching
      enzyme (GBE 1) in a 16-month-old infant with a combination of hepatic and
      muscular features, an atypical clinical presentation of glycogenosis type IV (GSD
      IV). The patient was heterozygous for a G-to-A substitution at codon 524 (R524Q),
      changing an encoded arginine (CGA) to glutamine (CAA), while the GBE1 gene on the
      other allele was not expressed. This case broadens the spectrum of mutations in
      patients with GSD IV and confirms the clinical and molecular heterogeneity of
      this disease.
FAU - Bruno, C
AU  - Bruno C
AD  - H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related
      Diseases, Department of Neurology, Columbia University College of Physicians and 
      Surgeons, New York 10032, USA.
FAU - DiRocco, M
AU  - DiRocco M
FAU - Lamba, L D
AU  - Lamba LD
FAU - Bado, M
AU  - Bado M
FAU - Marino, C
AU  - Marino C
FAU - Tsujino, S
AU  - Tsujino S
FAU - Shanske, S
AU  - Shanske S
FAU - Stella, G
AU  - Stella G
FAU - Minetti, C
AU  - Minetti C
FAU - van Diggelen, O P
AU  - van Diggelen OP
FAU - DiMauro, S
AU  - DiMauro S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0RH81L854J (Glutamine)
RN  - 94ZLA3W45F (Arginine)
RN  - EC 2.4.1.18 (1,4-alpha-Glucan Branching Enzyme)
SB  - IM
MH  - 1,4-alpha-Glucan Branching Enzyme/*genetics
MH  - Amino Acid Substitution
MH  - Arginine
MH  - Base Sequence
MH  - Cytoplasmic Granules/pathology/ultrastructure
MH  - Glutamine
MH  - Glycogen Storage Disease Type IV/enzymology/genetics
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Liver/*pathology/ultrastructure
MH  - Liver Diseases/enzymology/*genetics/pathology
MH  - Male
MH  - Muscle, Skeletal/*pathology/ultrastructure
MH  - Muscular Diseases/enzymology/*genetics/pathology
MH  - *Mutation, Missense
EDAT- 1999/11/02 00:00
MHDA- 1999/11/02 00:01
CRDT- 1999/11/02 00:00
PHST- 1999/11/02 00:00 [pubmed]
PHST- 1999/11/02 00:01 [medline]
PHST- 1999/11/02 00:00 [entrez]
AID - 10.1016/s0960-8966(99)00040-1 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 Oct;9(6-7):403-7. doi: 10.1016/s0960-8966(99)00040-1.